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733425005: Acrocephalopolysyndactyly type IV (disorder)

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