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719101006: Carpenter Waziri syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3314987012 Carpenter Waziri syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3314988019 Carpenter Waziri syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3314989010 An X-linked mental retardation syndrome belonging to the group of conditions with manifestations of intellectual deficit with hypotonic facies. Prevalence is unknown but the syndrome was originally described in 1988 in six males from three generations of one family. In the affected males the syndrome has characteristics of coarse facial appearance (prominent lips, bushy eyebrows, widely-spaced teeth, and a broad and depressed nasal bridge with a wide nasal tip), brachydactyly with widening of the distal phalanges, short stature and moderate intellectual deficit. The syndrome is caused by mutations in the ATRX gene (Xq13.3).The syndrome is transmitted as an X-linked recessive trait with skewed X-inactivation in carrier females. 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
    Carpenter Waziri syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Some
    Carpenter Waziri syndrome Is a Mental retardation false Inferred relationship Some
    Carpenter Waziri syndrome Is a X-linked hereditary disease false Inferred relationship Some
    Carpenter Waziri syndrome Is a Short stature disorder false Inferred relationship Some
    Carpenter Waziri syndrome Associated morphology Developmental anomaly false Inferred relationship Some 2
    Carpenter Waziri syndrome Occurrence Congenital false Inferred relationship Some 2
    Carpenter Waziri syndrome Finding site Limb structure false Inferred relationship Some 2
    Carpenter Waziri syndrome Associated morphology Developmental anomaly false Inferred relationship Some 3
    Carpenter Waziri syndrome Occurrence Congenital false Inferred relationship Some 3
    Carpenter Waziri syndrome Finding site Face structure false Inferred relationship Some 3
    Carpenter Waziri syndrome Is a Intellectual disability false Inferred relationship Some
    Carpenter Waziri syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
    Carpenter Waziri syndrome Occurrence Congenital false Inferred relationship Some 1
    Carpenter Waziri syndrome Finding site Face structure false Inferred relationship Some 1
    Carpenter Waziri syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Carpenter Waziri syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
    Carpenter Waziri syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Carpenter Waziri syndrome Is a Developmental hereditary disorder false Inferred relationship Some
    Carpenter Waziri syndrome Interprets Height / growth measure false Inferred relationship Some 3
    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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