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154341000146107: aan duale specificiteit tyrosinefosforylatie-gereguleerde kinase 1A gerelateerd syndroom van verstandelijke beperking (aandoening)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

    Descriptions:

    Id Description Lang Type Status Case? Module
    12991121000146114 Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    12991131000146111 Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    12991141000146115 DYRK1A-related intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    12998151000146112 DYRK1A-gerelateerd syndroom van verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    12998161000146110 DYRK1A-gerelateerd syndroom van verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    12998171000146116 aan duale specificiteit tyrosinefosforylatie-gereguleerde kinase 1A gerelateerd syndroom van verstandelijke beperking (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    12998181000146119 aan duale specificiteit tyrosinefosforylatie-gereguleerde kinase 1A gerelateerd syndroom van verstandelijke beperking nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    12998191000146117 aan duale specificiteit tyrosinefosforylatie-gereguleerde kinase 1A gerelateerd syndroom van mentale retardatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    DYRK1A-gerelateerd syndroom van verstandelijke beperking Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    DYRK1A-gerelateerd syndroom van verstandelijke beperking Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
    DYRK1A-gerelateerd syndroom van verstandelijke beperking Is a Genetic disease false Inferred relationship Some
    DYRK1A-gerelateerd syndroom van verstandelijke beperking Occurrence Congenital false Inferred relationship Some 1
    DYRK1A-gerelateerd syndroom van verstandelijke beperking Finding site Face structure false Inferred relationship Some 1
    DYRK1A-gerelateerd syndroom van verstandelijke beperking Is a Intellectual disability false Inferred relationship Some
    DYRK1A-gerelateerd syndroom van verstandelijke beperking Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) Is a False DYRK1A-gerelateerd syndroom van verstandelijke beperking Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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