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715821000: Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (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
5401120017 A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401121018 A rare form of lissencephaly with cerebellar hypoplasia characterised by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303816012 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303817015 Lissencephaly with cerebellar hypoplasia type D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303818013 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
6396521000241119 lissencéphalie avec hypoplasie cérébelleuse congénitale de type D fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6396531000241117 LCHd - lissencéphalie avec hypoplasie cérébelleuse de type D fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451481001000113 Lissenzephalie mit zerebellärer Hypoplasie Typ D 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 form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Is a Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) true Inferred relationship Some
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Associated morphology anomalie congénitale false Inferred relationship Some 2
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Finding site Brain structure false Inferred relationship Some 2
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Associated morphology Hypoplasia false Inferred relationship Some 3
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Occurrence Congenital false Inferred relationship Some 3
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Finding site Cerebellar structure false Inferred relationship Some 3
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Finding site Cerebellar structure true Inferred relationship Some 1
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Occurrence Congenital true Inferred relationship Some 1
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Associated morphology Hypoplasia 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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