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733425005: acrocefalopolysyndactylie type 4 (aandoening)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Sep 2024. 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
    6185281000146118 acrocefalopolysyndactylie type 4 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    6185291000146116 syndroom van Goodman nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    6185301000146117 ACPS 4 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    6185311000146115 acrocefalopolysyndactylie type 4 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    6215431000146115 Goodman-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    acrocefalopolysyndactylie type 4 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    acrocefalopolysyndactylie type 4 Is a Acrocephalopolysyndactyly false Inferred relationship Some
    acrocefalopolysyndactylie type 4 Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
    acrocefalopolysyndactylie type 4 Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    acrocefalopolysyndactylie type 4 Finding site Bone structure of cranium false Inferred relationship Some
    acrocefalopolysyndactylie type 4 Occurrence Congenital false Inferred relationship Some 3
    acrocefalopolysyndactylie type 4 Occurrence Congenital false Inferred relationship Some 4
    acrocefalopolysyndactylie type 4 Associated morphology congenitale premature fusie false Inferred relationship Some 3
    acrocefalopolysyndactylie type 4 Finding site Joint structure of suture of skull false Inferred relationship Some 3
    acrocefalopolysyndactylie type 4 Associated morphology congenitale afwijkende fusie false Inferred relationship Some 4
    acrocefalopolysyndactylie type 4 Finding site Digit structure false Inferred relationship Some 4
    acrocefalopolysyndactylie type 4 Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    acrocefalopolysyndactylie type 4 Occurrence Congenital false Inferred relationship Some 2
    acrocefalopolysyndactylie type 4 Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    acrocefalopolysyndactylie type 4 Occurrence Congenital false Inferred relationship Some 1
    acrocefalopolysyndactylie type 4 Finding site Digit structure false Inferred relationship Some 1
    acrocefalopolysyndactylie type 4 Finding site Joint structure of suture of skull false Inferred relationship Some 2
    acrocefalopolysyndactylie type 4 Associated morphology congenitale afwijkende fusie false Inferred relationship Some 1
    acrocefalopolysyndactylie type 4 Associated morphology congenitale premature fusie false Inferred relationship Some 2
    acrocefalopolysyndactylie type 4 Is a Developmental hereditary disorder false Inferred relationship Some
    acrocefalopolysyndactylie type 4 Associated morphology Supernumerary structure false Inferred relationship Some 3
    acrocefalopolysyndactylie type 4 Finding site Digit structure false Inferred relationship Some 3
    acrocefalopolysyndactylie type 4 Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    acrocefalopolysyndactylie type 4 Associated morphology Premature fusion false Inferred relationship Some 2
    acrocefalopolysyndactylie type 4 Associated morphology Abnormally fused structure (morphologic abnormality) false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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