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771234002: Isolated bilateral hemispheric cerebellar hypoplasia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705183017 Isolated bilateral hemispheric cerebellar hypoplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705184011 Isolated bilateral hemispheric cerebellar hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705185012 A rare cerebellar malformation with characteristics of hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected individuals present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor and possible emotional fragility and mild depression. 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
Isolated bilateral hemispheric cerebellar hypoplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
Isolated bilateral hemispheric cerebellar hypoplasia (disorder) Finding site Cerebral hemisphere structure (body structure) true Inferred relationship Some 1
Isolated bilateral hemispheric cerebellar hypoplasia (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Isolated bilateral hemispheric cerebellar hypoplasia (disorder) Is a Congenital hypoplasia of cerebrum true Inferred relationship Some
Isolated bilateral hemispheric cerebellar hypoplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Isolated bilateral hemispheric cerebellar hypoplasia (disorder) Is a Finding of head region true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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