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 |
| 1014921000172112 | déficit global en prosaposine | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3322342017 | Encephalopathy due to prosaposin deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322343010 | Encephalopathy due to prosaposin deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322344016 | Combined prosaposin deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 756661000241116 | encéphalopathie due à un déficit en prosaposine (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 953431000172117 | encéphalopathie due à un déficit en prosaposine | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3322345015 | A lysosomal storage disease belonging to the group of sphingolipidoses. It is very rare with less than 10 cases reported in the literature so far. Clinically, it is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course. The neurological signs and symptoms include hypotonia, massive myoclonic bursts, abnormal ocular movements and dystonia. Grand mal seizures and seizures triggered by tactile stimuli have been described. Patients also develop hepatosplenomegaly. Death usually occurs from respiratory failure following repeated pulmonary infections. The disease is caused by mutations in the PSAP gene (10q21) leading to absence or non-functionality of the prosaposin protein. The mode of inheritance is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Encephalopathy due to prosaposin deficiency (disorder) | est un(e) (attribut) | Disorder of brain (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy due to prosaposin deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Encephalopathy due to prosaposin deficiency (disorder) | est un(e) (attribut) | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Encephalopathy due to prosaposin deficiency (disorder) | est un(e) (attribut) | Sphingolipidosis | true | Inferred relationship | Some | ||
| Encephalopathy due to prosaposin deficiency (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Encephalopathy due to prosaposin deficiency (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR