Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4672922017 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4672926019 | VPS11-related autosomal recessive hypomyelinating leucodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4672927011 | VPS11-related autosomal recessive hypomyelinating leukoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4672928018 | VPS11-related autosomal recessive hypomyelinating leucoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4673232012 | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4673233019 | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leucodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4673234013 | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4672929014 | A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4672930016 | A rare genetic leucodystrophy identified in families of Ashkenazi Jewish descent, characterised by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Is a | Leucodystrophy | true | Inferred relationship | Some | ||
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Finding site | Myelinated nerve fiber structure | true | Inferred relationship | Some | 1 | |
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Associated morphology | Myelin sheath alteration | true | Inferred relationship | Some | 1 | |
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Finding site | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 2 | |
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR