716249009: Tetraamelia with multiple malformation syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Absence of lower limb (finding)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Absence of lower limb (finding)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Absence of lower limb (finding)\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Absence of lower limb (finding)\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb (disorder)\Congenital complete absence of right lower limb\Congenital complete absence of bilateral lower limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of right upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital complete absence of upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs\An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305237013 Tetraamelia with multiple malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305238015 Tetraamelia with multiple malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305239011 Zimmer phocomelia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3305241012 Tetra-amelia with multiple malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5401287011 An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401288018 An extremely rare mostly lethal congenital disorder characterised by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3305237013 Tetraamelia with multiple malformation syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3305237013 Tetraamelia with multiple malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305238015 Tetraamelia with multiple malformation syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3305238015 Tetraamelia with multiple malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305239011 Zimmer phocomelia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3305241012 Tetra-amelia with multiple malformation syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3305241012 Tetra-amelia with multiple malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305240013 An extremely rare mostly lethal congenital disorder with characteristics of absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of Middle Eastern descent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401287011 An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401288018 An extremely rare mostly lethal congenital disorder characterised by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3413551001000113 Tetraamelie - Multiple Fehlbildungen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3413551001000113 Tetraamelie - Multiple Fehlbildungen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	Congenital complete absence of upper limb (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	Congenital complete absence of lower limb (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Finding site	Entire upper limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Finding site	Entire lower limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Finding site	Entire left upper extremity	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	Congenital deformity of bilateral upper limbs (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	Bilateral congenital deformity of lower limbs	false	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Finding site	Entire left lower limb (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Finding site	Entire right lower limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Finding site	Entire right upper extremity	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Associated morphology	Agenesis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Associated morphology	Agenesis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Associated morphology	Agenesis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Associated morphology	Agenesis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	Congenital absence of right lower limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	Congenital absence of left lower limb (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	Congenital complete absence of bilateral upper limbs	true	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	Congenital complete absence of bilateral lower limbs	true	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
3305237013	Tetraamelia with multiple malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305238015	Tetraamelia with multiple malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305239011	Zimmer phocomelia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305241012	Tetra-amelia with multiple malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401287011	An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401288018	An extremely rare mostly lethal congenital disorder characterised by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305237013	Tetraamelia with multiple malformation syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3305237013	Tetraamelia with multiple malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305238015	Tetraamelia with multiple malformation syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3305238015	Tetraamelia with multiple malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305239011	Zimmer phocomelia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305241012	Tetra-amelia with multiple malformation syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3305241012	Tetra-amelia with multiple malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305240013	An extremely rare mostly lethal congenital disorder with characteristics of absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of Middle Eastern descent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401287011	An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401288018	An extremely rare mostly lethal congenital disorder characterised by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3413551001000113	Tetraamelie - Multiple Fehlbildungen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3413551001000113	Tetraamelie - Multiple Fehlbildungen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module