Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5048339010 | Prune exopolyphosphatase 1-related neurological syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048340012 | PRUNE1-related neurological syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5048341011 | Prune exopolyphosphatase 1-related neurological syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048342016 | A rare genetic syndromic intellectual disability with characteristics of infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency and optic atrophy among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination and thin corpus callosum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Prune exopolyphosphatase 1-related neurological syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Prune exopolyphosphatase 1-related neurological syndrome (disorder) | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| Prune exopolyphosphatase 1-related neurological syndrome (disorder) | est un(e) (attribut) | Disorder of the central nervous system (disorder) | true | Inferred relationship | Some | ||
| Prune exopolyphosphatase 1-related neurological syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Prune exopolyphosphatase 1-related neurological syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Prune exopolyphosphatase 1-related neurological syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Prune exopolyphosphatase 1-related neurological syndrome (disorder) | localisation d'une constatation (attribut) | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Prune exopolyphosphatase 1-related neurological syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR