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733425005: Acrocephalopolysyndactyly type IV (disorder)


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
3499410016 Acrocephalopolysyndactyly type IV (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499411017 Acrocephalopolysyndactyly type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499412012 Acrocephalopolysyndactyly type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499413019 Goodman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499994018 Goodman syndrome is an extremely rare genetic disorder with characteristics of marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
11362681000172110 ACPS (acrocéphalopolysyndactylie) de type IV fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
11362691000172113 acrocéphalopolysyndactylie de type IV fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
11362701000172113 syndrome de Goodman fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4945591000172112 acrocefalopolysyndactylie type 4 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4945601000172119 syndroom van Goodman nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4945611000172116 ACPS 4 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4945621000172114 Goodman-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acrocephalopolysyndactyly type IV (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Acrocephalopolysyndactyly type IV (disorder) Is a Acrocephalopolysyndactyly true Inferred relationship Some
Acrocephalopolysyndactyly type IV (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Acrocephalopolysyndactyly type IV (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Acrocephalopolysyndactyly type IV (disorder) Finding site Bone structure of cranium false Inferred relationship Some
Acrocephalopolysyndactyly type IV (disorder) Occurrence Congenital true Inferred relationship Some 3
Acrocephalopolysyndactyly type IV (disorder) Occurrence Congenital false Inferred relationship Some 4
Acrocephalopolysyndactyly type IV (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 3
Acrocephalopolysyndactyly type IV (disorder) Finding site Joint structure of suture of skull false Inferred relationship Some 3
Acrocephalopolysyndactyly type IV (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 4
Acrocephalopolysyndactyly type IV (disorder) Finding site Digit structure false Inferred relationship Some 4
Acrocephalopolysyndactyly type IV (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Acrocephalopolysyndactyly type IV (disorder) Occurrence Congenital true Inferred relationship Some 2
Acrocephalopolysyndactyly type IV (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acrocephalopolysyndactyly type IV (disorder) Occurrence Congenital true Inferred relationship Some 1
Acrocephalopolysyndactyly type IV (disorder) Finding site Digit structure true Inferred relationship Some 1
Acrocephalopolysyndactyly type IV (disorder) Finding site Joint structure of suture of skull true Inferred relationship Some 2
Acrocephalopolysyndactyly type IV (disorder) Associated morphology Congenital abnormal fusion true Inferred relationship Some 1
Acrocephalopolysyndactyly type IV (disorder) Associated morphology Congenital premature fusion true Inferred relationship Some 2
Acrocephalopolysyndactyly type IV (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Acrocephalopolysyndactyly type IV (disorder) Associated morphology Supernumerary structure true Inferred relationship Some 3
Acrocephalopolysyndactyly type IV (disorder) Finding site Digit structure true Inferred relationship Some 3
Acrocephalopolysyndactyly type IV (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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