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 |
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)