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1010630006: X-linked complicated corpus callosum dysgenesis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4213372010 X-linked complicated corpus callosum dysgenesis (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4213373017 X-linked complicated corpus callosum dysgenesis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
7698471000241111 dysgénésie complexe du corps calleux, liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked complicated corpus callosum dysgenesis (disorder) Occurrence Congenital true Inferred relationship Some 1
X-linked complicated corpus callosum dysgenesis (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked complicated corpus callosum dysgenesis (disorder) Is a A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. true Inferred relationship Some
X-linked complicated corpus callosum dysgenesis (disorder) Associated morphology Dilatation true Inferred relationship Some 1
X-linked complicated corpus callosum dysgenesis (disorder) Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 1
X-linked complicated corpus callosum dysgenesis (disorder) Finding site Corpus callosum structure true Inferred relationship Some 2
X-linked complicated corpus callosum dysgenesis (disorder) Associated morphology Hypoplasia true Inferred relationship Some 2
X-linked complicated corpus callosum dysgenesis (disorder) Occurrence Congenital true Inferred relationship Some 2
X-linked complicated corpus callosum dysgenesis (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
X-linked complicated corpus callosum dysgenesis (disorder) Interprets Intellectual ability true Inferred relationship Some 3
X-linked complicated corpus callosum dysgenesis (disorder) Has interpretation Impaired true Inferred relationship Some 3
X-linked complicated corpus callosum dysgenesis (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
X-linked complicated corpus callosum dysgenesis (disorder) Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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