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720857006: Ehlers-Danlos syndrome with periventricular heterotopia (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
    3322311010 Ehlers-Danlos syndrome with periventricular heterotopia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3322312015 Ehlers-Danlos syndrome with periventricular heterotopia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3322313013 A newly described variant of Ehlers-Danlos syndrome (EDS). Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia, which has characteristics of focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurysmal dilatation of the sinus of Valsalva. Caused by mutations in the filamin A gene (FLNA) located at locus Xq28 on the long arm of chromosome X. This suggests a novel cause of EDS. The disease is transmitted as an X-linked dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3322311010 Ehlers-Danlos syndrome with periventricular heterotopia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3322312015 Ehlers-Danlos syndrome with periventricular heterotopia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3322313013 A newly described variant of Ehlers-Danlos syndrome (EDS). Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia, which has characteristics of focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurysmal dilatation of the sinus of Valsalva. Caused by mutations in the filamin A gene (FLNA) located at locus Xq28 on the long arm of chromosome X. This suggests a novel cause of EDS. The disease is transmitted as an X-linked dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    916071000172110 syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    1009421000172119 syndrome d'EDS, hétérotopie nodulaire périventriculaire fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    916071000172110 syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    1009421000172119 syndrome d'EDS, hétérotopie nodulaire périventriculaire fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a Neuronal heterotopia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a Ehlers-Danlos syndrome (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 5
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 6
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology Neuronal heterotopia (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 4
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 7
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 1
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology Neuronal heterotopia (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a Skeletal dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Finding site Connective tissue structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology Dysplasia 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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