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725418006: Cerebral gigantism jaw cysts syndrome (disorder)


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

    Descriptions:

    Id Description Lang Type Status Case? Module
    3442476016 Cerebral gigantism jaw cysts syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3442477013 Cerebral gigantism jaw cysts syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3442478015 Cramer Niederdellmann syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3442479011 Syndrome that is characterized by cerebral gigantism associated with a jaw cyst basal cell nevoid syndrome. It has been reported in less than ten patients from two families. Neurological manifestations include hydrocephalus, ventricular malformation, a cerebellar syndrome, intracranial calcification, oculomotor disturbances and in some cases mild peripheral nervous disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3442480014 Syndrome that is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome. It has been reported in less than ten patients from two families. Neurological manifestations include hydrocephalus, ventricular malformation, a cerebellar syndrome, intracranial calcification, oculomotor disturbances and in some cases mild peripheral nervous disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3993361000052114 syndrom med cerebral gigantism och käkcystor sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    syndrom med cerebral gigantism och käkcystor Is a Multiple malformation syndrome with early overgrowth false Inferred relationship Some
    syndrom med cerebral gigantism och käkcystor Is a Congenital anomaly of central nervous system false Inferred relationship Some
    syndrom med cerebral gigantism och käkcystor Associated morphology utvecklingsabnormitet false Inferred relationship Some 1
    syndrom med cerebral gigantism och käkcystor Occurrence Congenital false Inferred relationship Some 1
    syndrom med cerebral gigantism och käkcystor Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
    syndrom med cerebral gigantism och käkcystor Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    syndrom med cerebral gigantism och käkcystor Associated morphology Morphologically abnormal structure (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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