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733606001: Summitt-syndroom (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
    3499668012 Summitt syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3499669016 Summitt syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3499670015 Summitt's acrocephalosyndactyly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    6268731000146117 syndroom van Summitt nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    6268751000146111 acrocefalosyndactylie van Summitt nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    6268761000146114 Summitt-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    10672471000146111 Summitt-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    3500047010 Summitt syndrome is an extremely rare disorder originally described in two brothers and with characteristics of mild to severe craniosynostosis and syndactyly, obesity and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. 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
    Summitt-syndroom Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    Summitt-syndroom Is a Acrocephalosyndactyly false Inferred relationship Some
    Summitt-syndroom Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
    Summitt-syndroom Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Summitt-syndroom Finding site Bone structure of cranium false Inferred relationship Some
    Summitt-syndroom Occurrence Congenital false Inferred relationship Some 3
    Summitt-syndroom Occurrence Congenital false Inferred relationship Some 4
    Summitt-syndroom Associated morphology congenitale premature fusie false Inferred relationship Some 3
    Summitt-syndroom Finding site Joint structure of suture of skull false Inferred relationship Some 3
    Summitt-syndroom Associated morphology congenitale afwijkende fusie false Inferred relationship Some 4
    Summitt-syndroom Finding site Digit structure false Inferred relationship Some 4
    Summitt-syndroom Occurrence Congenital false Inferred relationship Some 2
    Summitt-syndroom Finding site Joint structure of suture of skull false Inferred relationship Some 1
    Summitt-syndroom Occurrence Congenital false Inferred relationship Some 1
    Summitt-syndroom Associated morphology congenitale premature fusie false Inferred relationship Some 1
    Summitt-syndroom Finding site Digit structure false Inferred relationship Some 2
    Summitt-syndroom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Summitt-syndroom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Summitt-syndroom Associated morphology congenitale afwijkende fusie false Inferred relationship Some 2
    Summitt-syndroom Is a Developmental hereditary disorder false Inferred relationship Some
    Summitt-syndroom Associated morphology Premature fusion false Inferred relationship Some 1
    Summitt-syndroom Associated morphology Abnormally fused structure (morphologic abnormality) false Inferred relationship Some 2
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    REPLACED BY association reference set (foundation metadata concept)

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