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785306007: Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
5408728011 A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5408729015 A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterised by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3766860019 Lissencephaly with cerebellar hypoplasia type E en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3766864011 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3766865012 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
6336841000241115 LCHe - lissencéphalie avec hypoplasie cérébelleuse de type E fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6336851000241117 lissencéphalie avec hypoplasie cérébelleuse congénitale de type E fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429931001000116 Lissenzephalie mit zerebellärer Hypoplasie Typ E de 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
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. Associated morphology Hypoplasia true Inferred relationship Some 1
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. Is a Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) true Inferred relationship Some
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. Occurrence Congenital true Inferred relationship Some 1
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. Is a Genetic disease false Inferred relationship Some
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. Finding site Cerebellar structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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