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718607001: Congenital pontocerebellar hypoplasia type 5 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3312907013 Congenital pontocerebellar hypoplasia type 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312908015 Congenital pontocerebellar hypoplasia type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312909011 PCH5 - pontocerebellar hypoplasia type 5 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312910018 Pontocerebellar hypoplasia type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312911019 Fetal onset olivopontocerebellar hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312912014 Foetal onset olivopontocerebellar hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312907013 Congenital pontocerebellar hypoplasia type 5 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3312907013 Congenital pontocerebellar hypoplasia type 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312908015 Congenital pontocerebellar hypoplasia type 5 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3312908015 Congenital pontocerebellar hypoplasia type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312909011 PCH5 - pontocerebellar hypoplasia type 5 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312910018 Pontocerebellar hypoplasia type 5 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3312910018 Pontocerebellar hypoplasia type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312911019 Fetal onset olivopontocerebellar hypoplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3312911019 Fetal onset olivopontocerebellar hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312912014 Foetal onset olivopontocerebellar hypoplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3312912014 Foetal onset olivopontocerebellar hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312931015 A very rare severe form of PCH with prenatal onset, with characteristics of fetal onset of clonus or seizures-like activity persisting into infancy and microcephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. PCH5 is reported in 3 siblings to date. PCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene. PCH5 transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5885411000241115 hypoplasie olivopontocérébelleuse fœtale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885421000241110 hypoplasie pontocérébelleuse congénitale de type 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885431000241112 HPC5 - hypoplasie pontocérébelleuse congénitale de type 5 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885411000241115 hypoplasie olivopontocérébelleuse fœtale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885421000241110 hypoplasie pontocérébelleuse congénitale de type 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885431000241112 HPC5 - hypoplasie pontocérébelleuse congénitale de type 5 fr 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
Congenital pontocerebellar hypoplasia type 5 Is a Congenital pontocerebellar hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 5 Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 5 Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 5 Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 5 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 5 Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 5 Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 5 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 5 Finding site Pontine structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 5 Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 5 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 5 Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 5 Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 5 Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 5 Finding site Pontine structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 5 Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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