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721224008: Holmes Gang syndrome (disorder)

    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3324667013 Holmes Gang syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
    3324668015 Holmes Gang syndrome en Synonym Active Case sensitive SNOMED CT core
    3324670012 Holmes Gang syndrome is an X-linked mental retardation syndrome that was first described in 1984 in three males from two generations of the same family. The syndrome has characteristics of microcephaly, a large anterior fontanelle, characteristic facies (short nose, anteverted nares, epicanthal folds), club-foot deformity and delayed psychomotor development. One of the affected males also had renal hypoplasia/dysplasia. All three patients died during infancy. The syndrome is caused by mutations in the ATRX gene (Xq13.3). Inheritance is X-linked recessive. en Definition Active Case sensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Holmes Gang syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
    Holmes Gang syndrome Pathological process Pathological developmental process false Inferred relationship Some 1
    Holmes Gang syndrome Is a Developmental hereditary disorder false Inferred relationship Some
    Holmes Gang syndrome Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Holmes Gang syndrome Is a Intellectual disability false Inferred relationship Some
    Holmes Gang syndrome Is a X-linked hereditary disease false Inferred relationship Some
    Holmes Gang syndrome Associated morphology Developmental abnormality false Inferred relationship Some 1
    Holmes Gang syndrome Occurrence Congenital false Inferred relationship Some 1
    Holmes Gang syndrome Finding site Face structure false Inferred relationship Some 1
    Holmes Gang syndrome Is a Intellectual disability false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    REPLACED BY association reference set

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