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719137001: X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3315136017 X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3315137014 X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3315138016 This syndrome has characteristics of intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely 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
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a Agenesis of corpus callosum false Inferred relationship Some
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a Mental retardation false Inferred relationship Some
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a X-linked hereditary disease false Inferred relationship Some
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a Spastic quadriparesis (disorder) false Inferred relationship Some
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Finding site Limb structure false Inferred relationship Some 2
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Occurrence Congenital false Inferred relationship Some 2
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Finding site Entire corpus callosum false Inferred relationship Some 2
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a Intellectual disability false Inferred relationship Some
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Finding site Entire corpus callosum false Inferred relationship Some 1
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Occurrence Congenital false Inferred relationship Some 1
    X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Associated morphology Agenesis (morphologic abnormality) false Inferred relationship Some 1
    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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