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

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
    3316197016 Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3316203018 Microcephaly and intellectual disability with phalangeal and neurological anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3316204012 Woods Crouchman Huson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
    3316196013 Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3316196013 Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3316197016 Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3316197016 Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3316203018 Microcephaly and intellectual disability with phalangeal and neurological anomaly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3316203018 Microcephaly and intellectual disability with phalangeal and neurological anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3316204012 Woods Crouchman Huson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Is a microcéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
    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 Existential restriction modifier (core metadata concept)
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Congenital anomaly of digit false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    REPLACED BY association reference set (foundation metadata concept)

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