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715819005: Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303808015 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303809011 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303810018 Lissencephaly with cerebellar hypoplasia type B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401116016 A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401117013 A rare form of lissencephaly with cerebellar hypoplasia characterised by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303808015 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303809011 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303810018 Lissencephaly with cerebellar hypoplasia type B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303811019 A form of lissencephaly with cerebellar hypoplasia with main features of subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic feature on imaging. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401116016 A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401117013 A rare form of lissencephaly with cerebellar hypoplasia characterised by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3432861001000113 Lissenzephalie mit zerebellärer Hypoplasie Typ B de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6346671000241113 LCHb - lissencéphalie avec hypoplasie cérébelleuse de type B fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6346681000241110 lissencéphalie avec hypoplasie cérébelleuse congénitale de type B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6346671000241113 LCHb - lissencéphalie avec hypoplasie cérébelleuse de type B fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6346681000241110 lissencéphalie avec hypoplasie cérébelleuse congénitale de type B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432861001000113 Lissenzephalie mit zerebellärer Hypoplasie Typ B 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
Lissencephaly with cerebellar hypoplasia type B Is a Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly with cerebellar hypoplasia type B Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Lissencephaly with cerebellar hypoplasia type B Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Lissencephaly with cerebellar hypoplasia type B Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Lissencephaly with cerebellar hypoplasia type B Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Lissencephaly with cerebellar hypoplasia type B Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Lissencephaly with cerebellar hypoplasia type B Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lissencephaly with cerebellar hypoplasia type B Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lissencephaly with cerebellar hypoplasia type B Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lissencephaly with cerebellar hypoplasia type B Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 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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