733118006: Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital absence of spine\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Finding of back (finding)\Finding of spinal region\Vertebral column finding (finding)\Disorder of vertebral column (disorder)\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital absence of spine\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital absence of spine\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Finding of limb structure (finding)\Disorder of limb\...
• \Disorder of digit\Congenital anomaly of digit\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding (finding)\Vertebral column finding (finding)\Disorder of vertebral column (disorder)\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding (finding)\Bone finding\Bone absent (finding)\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Aplasia of bone of axial skeleton\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Aplasia of bone of axial skeleton\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital absence of spine\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Aplasia of bone of axial skeleton\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Aplasia of bone of axial skeleton\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Aplasia of bone of axial skeleton\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital absence of spine\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital absence of spine\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital absence of spine\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Aplasia of bone of axial skeleton\Aplasia of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498796018	Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498797010	Johnson Munson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498798017	Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403760018	An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5434168013	An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterised by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498796018	Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498797010	Johnson Munson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498798017	Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499986013	An extremely rare congenital limb malformation syndrome, described in only 3 patients to date with the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403760018	An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5434168013	An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterised by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3397311001000115	Aphalangie-Hemivertebrae-urogenital-intestinale Dysgenesie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
879891000172112	syndrome de Johnson-Munson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
893231000172116	syndrome d'aphalangie-hémivertèbre-dysgénésie uro-génito-intestinale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
879891000172112	syndrome de Johnson-Munson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
893231000172116	syndrome d'aphalangie-hémivertèbre-dysgénésie uro-génito-intestinale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3397311001000115	Aphalangie-Hemivertebrae-urogenital-intestinale Dysgenesie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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