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719396000: Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder)

    Status: retired, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3316196013 Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
    3316197016 Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome en Synonym Active Case insensitive SNOMED CT core
    3316203018 Microcephaly and intellectual disability with phalangeal and neurological anomaly syndrome en Synonym Active Case insensitive SNOMED CT core
    3316204012 Woods Crouchman Huson syndrome en Synonym Active Case sensitive SNOMED CT core
    3316205013 This syndrome has characteristics of microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes). Hypotonia, pre and postnatal growth retardation, a characteristic face (broad forehead with a low frontal hair line, a broad nasal bridge and prominent columella, hypoplastic alae nasi, short philtrum, and a straight mouth with thin lips and downward slanting palpebral fissures) and optic atrophy were also reported. en Definition Active Case sensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence Congenital false Inferred relationship Some 1
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site Brain structure false Inferred relationship Some 1
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Pathological process Pathological developmental process false Inferred relationship Some 3
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 3
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology Congenital smallness false Inferred relationship Some 1
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence Congenital false Inferred relationship Some 2
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Pathological process Pathological developmental process false Inferred relationship Some 1
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site Digit structure false Inferred relationship Some 2
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Microcephalus false Inferred relationship Some
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Some
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Congenital anomaly of brain false Inferred relationship Some
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Intellectual disability false Inferred relationship Some
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Congenital anomaly of digit false Inferred relationship Some
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence Congenital false Inferred relationship Some 3
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence Congenital false Inferred relationship Some 4
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site Digit structure false Inferred relationship Some 4
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence Congenital false Inferred relationship Some 5
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site Face structure false Inferred relationship Some 3
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology Congenital smallness false Inferred relationship Some 5
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site Brain structure false Inferred relationship Some 5
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Intellectual disability false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set

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