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717763008: Chudley Lowry Hoar 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
    3310395011 Chudley Lowry Hoar syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3310396012 Chudley Lowry Hoar syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3310397015 Chudley Lowry syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3310398013 An X-linked mental retardation syndrome belonging to the group of conditions with the association of intellectual deficit with hypotonic facies. Prevalence is unknown but the syndrome was first described in 1988 in three males (a 3-year-old boy and his two maternal uncles) from a family in which two other males had died in infancy/childhood. All affected males had a characteristic facies (bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip and macrostomia). The surviving patients also had severe intellectual deficit, short stature, mild obesity, hypogonadism and a low total finger ridge count. The syndrome is caused by missense mutations in the ATRX gene (Xq13.3). Inheritance is X-linked recessive. 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
    Chudley Lowry Hoar syndrome Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Chudley Lowry Hoar syndrome Is a Mental retardation false Inferred relationship Some
    Chudley Lowry Hoar syndrome Is a X-linked hereditary disease false Inferred relationship Some
    Chudley Lowry Hoar syndrome Associated morphology Developmental anomaly false Inferred relationship Some 1
    Chudley Lowry Hoar syndrome Occurrence Congenital false Inferred relationship Some 1
    Chudley Lowry Hoar syndrome Finding site Face structure false Inferred relationship Some 1
    Chudley Lowry Hoar syndrome Is a Intellectual disability false Inferred relationship Some
    Chudley Lowry Hoar syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Chudley Lowry Hoar syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
    Chudley Lowry Hoar syndrome Is a Developmental hereditary disorder false Inferred relationship Some
    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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