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785307003: Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A (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
5408730013 A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5408731012 A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterised by classical lissencephaly with thickened cortical grey matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3766866013 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3766867016 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3766868014 Lissencephaly with cerebellar hypoplasia type A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
6387481000241117 LCHa - lissencéphalie avec hypoplasie cérébelleuse de type A fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6387491000241115 lissencéphalie avec hypoplasie cérébelleuse congénitale de type A fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416421001000112 Lissenzephalie mit zerebellärer Hypoplasie Typ A 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 classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. Finding site Cerebellar structure true Inferred relationship Some 1
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. Associated morphology Hypoplasia true Inferred relationship Some 1
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. Is a Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) true Inferred relationship Some
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. Is a Genetic disease false Inferred relationship Some
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. Occurrence Congenital true Inferred relationship Some 1
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. Pathological process (attribute) Pathological developmental process 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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