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718606005: Congenital pontocerebellar hypoplasia type 6 (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
3312901014 Congenital pontocerebellar hypoplasia type 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312902019 Congenital pontocerebellar hypoplasia type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312903012 Pontocerebellar hypoplasia type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312904018 PCH6 - pontocerebellar hypoplasia type 6 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312905017 Fatal infantile encephalopathy with mitochondrial respiratory chain defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401786018 A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401787010 A rare, genetic form of pontocerebellar hypoplasia (PCH) characterised by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital pontocerebellar hypoplasia type 6 (disorder) Is a Congenital pontocerebellar hypoplasia true Inferred relationship Some
Congenital pontocerebellar hypoplasia type 6 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital pontocerebellar hypoplasia type 6 (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Congenital pontocerebellar hypoplasia type 6 (disorder) Associated morphology Hypoplasia true Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 6 (disorder) Occurrence Congenital true Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 6 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 6 (disorder) Associated morphology Hypoplasia false Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 6 (disorder) Occurrence Congenital false Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 6 (disorder) Finding site Pontine structure false Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 6 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 6 (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 6 (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 6 (disorder) Finding site Pontine structure true Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 6 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 6 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 6 (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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