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243996003: Entire limb (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
364884010 Entire limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
633759011 Entire limb (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1105941000241119 membre entier fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Entire limb Is a Limb structure true Inferred relationship Some
Entire limb Is a Entire body part false Inferred relationship Some
Entire limb partie de Entire body as a whole false Additional relationship Some
Entire limb Laterality Side (qualifier value) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Entire upper limb Is a True Entire limb Inferred relationship Some
Entire lower limb Is a True Entire limb Inferred relationship Some
Entire human nail partie de False Entire limb Additional relationship Some
Stifle bone partie de False Entire limb Additional relationship Some
Entire skin of limb partie de False Entire limb Additional relationship Some
Skin of digit partie de False Entire limb Additional relationship Some
Skin of interdigital web partie de False Entire limb Additional relationship Some
Periungual skin structure (body structure) partie de False Entire limb Additional relationship Some
Skin of part of digit partie de False Entire limb Additional relationship Some
Skin of part of interdigital web partie de False Entire limb Additional relationship Some
Skin structure of limb partie de False Entire limb Additional relationship Some
Entire interdigital space partie de False Entire limb Additional relationship Some
Entire hair of limb (body structure) partie de False Entire limb Additional relationship Some
Entire skin of hand and foot partie de False Entire limb Additional relationship Some
Entire bone of limb partie de False Entire limb Additional relationship Some
Skin of part of limb (body structure) partie de False Entire limb Additional relationship Some
Nail plate is the horny translucent plate of nail unit. partie de False Entire limb Inferred relationship Some
Limb part (body structure) partie de False Entire limb Additional relationship Some
Entire digit partie de False Entire limb Additional relationship Some
Dewclaw of hindlimb partie de False Entire limb Additional relationship Some
Skin structure of hand and foot partie de False Entire limb Additional relationship Some
Bone structure of limb partie de False Entire limb Additional relationship Some
Structure of interdigital space partie de False Entire limb Additional relationship Some
Dewclaw of forelimb partie de False Entire limb Additional relationship Some
Nail structure partie de False Entire limb Additional relationship Some
Structure of hair of limb (body structure) partie de False Entire limb Additional relationship Some
Digit structure partie de False Entire limb Additional relationship Some
Paw partie de False Entire limb Additional relationship Some
Duplication of whole limb Finding site False Entire limb Inferred relationship Some
croissance partielle d'un membre entier Finding site False Entire limb Inferred relationship Some
Specified nail NEC partie de False Entire limb Additional relationship Some
Nail NEC partie de False Entire limb Additional relationship Some
Duplication of limb NOS Finding site False Entire limb Inferred relationship Some
Other undergrowth of limb NOS Finding site False Entire limb Inferred relationship Some
Entire skin of lower limb partie de False Entire limb Additional relationship Some
Musculoskeletal system structure of digit (body structure) partie de False Entire limb Additional relationship Some
Skin structure of lower limb (body structure) partie de False Entire limb Additional relationship Some
Entire nail plate (body structure) partie de False Entire limb Inferred relationship Some
Joint structure of digit (body structure) partie de False Entire limb Additional relationship Some
Upper extremity paw partie de False Entire limb Additional relationship Some
Pastern region partie de False Entire limb Additional relationship Some
Medial splint bone of equine limb partie de False Entire limb Additional relationship Some
Cannon region of equine forelimb partie de False Entire limb Additional relationship Some
Cannon region of equine hindlimb partie de False Entire limb Additional relationship Some
Cannon region of equine limb partie de False Entire limb Additional relationship Some
Navicular bursa of equine foot partie de False Entire limb Additional relationship Some
Palmar digital nerve of equine forelimb partie de False Entire limb Additional relationship Some
Second metapodal of equine limb partie de False Entire limb Additional relationship Some
Second metapodal of equine hindlimb partie de False Entire limb Additional relationship Some
Second metapodal of equine forelimb partie de False Entire limb Additional relationship Some
Second interphalangeal joint of digit III of equine forelimb partie de False Entire limb Additional relationship Some
Proximal sesamoid of equine limb partie de False Entire limb Additional relationship Some
Third metapodal of equine limb partie de False Entire limb Additional relationship Some
Proximal sesamoid of equine forelimb partie de False Entire limb Additional relationship Some
Pastern region of equine limb partie de False Entire limb Additional relationship Some
Pastern region of equine hindlimb partie de False Entire limb Additional relationship Some
Pastern region of equine forelimb partie de False Entire limb Additional relationship Some
Palmar digital nerve of equine limb partie de False Entire limb Additional relationship Some
Navicular bursa of equine forefoot partie de False Entire limb Additional relationship Some
Second interphalangeal joint of equine digit III partie de False Entire limb Additional relationship Some
Second interphalangeal joint of digit III of equine hindlimb partie de False Entire limb Additional relationship Some
Edema of entire limb (finding) Finding site False Entire limb Inferred relationship Some 1
Edema of entire limb (finding) Finding site True Entire limb Inferred relationship Some 1
Duplication of whole limb Finding site True Entire limb Inferred relationship Some 1
Congenital complete absence of limb Finding site True Entire limb Inferred relationship Some 1
microsomie partielle Finding site False Entire limb Inferred relationship Some 2
Ectromelia Finding site True Entire limb Inferred relationship Some 1
Longitudinal deficiency of limb Finding site False Entire limb Inferred relationship Some 2
Limb reduction-ichthyosis syndrome Finding site True Entire limb Inferred relationship Some 2
Micromelia Finding site False Entire limb Inferred relationship Some 2
membre atrophié Finding site False Entire limb Inferred relationship Some 2
An extremely rare polymalformative syndrome. Finding site False Entire limb Inferred relationship Some 4
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Finding site False Entire limb Inferred relationship Some 4
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Finding site True Entire limb Inferred relationship Some 3
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. Finding site False Entire limb Inferred relationship Some 5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Finding site False Entire limb Inferred relationship Some 4
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Finding site False Entire limb Inferred relationship Some 6
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. Finding site False Entire limb Inferred relationship Some 3
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Finding site False Entire limb Inferred relationship Some 7
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Finding site False Entire limb Inferred relationship Some 4
Micromelia Finding site True Entire limb Inferred relationship Some 1
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Finding site False Entire limb Inferred relationship Some 7
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. Finding site False Entire limb Inferred relationship Some 5
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Finding site False Entire limb Inferred relationship Some 9
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. Finding site True Entire limb Inferred relationship Some 2
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy. Finding site False Entire limb Inferred relationship Some 4
Acquired absence of entire limb (disorder) Finding site True Entire limb Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. Finding site True Entire limb Inferred relationship Some 3
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. Finding site True Entire limb Inferred relationship Some 1
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. Finding site True Entire limb Inferred relationship Some 1
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Finding site True Entire limb Inferred relationship Some 1
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Finding site True Entire limb Inferred relationship Some 3
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. Finding site True Entire limb Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. Finding site True Entire limb Inferred relationship Some 1
An extremely rare polymalformative syndrome. Finding site True Entire limb Inferred relationship Some 1
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Finding site True Entire limb Inferred relationship Some 2
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Finding site True Entire limb Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Finding site True Entire limb Inferred relationship Some 1
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Finding site True Entire limb Inferred relationship Some 4
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy. Finding site True Entire limb Inferred relationship Some 1
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. Finding site True Entire limb Inferred relationship Some 2

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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