Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4634525018 | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634526017 | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634527014 | C11ORF73-related autosomal recessive hypomyelinating leucoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634528016 | C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634529012 | C11ORF73-related autosomal recessive hypomyelinating leucodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4636644018 | Hypomyelinating leukodystrophy due to HIKESHI deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4636645017 | Hypomyelinating leucodystrophy due to HIKESHI deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4634532010 | A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634533017 | A rare leucodystrophy characterised by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Leucodystrophy | true | Inferred relationship | Some | ||
| C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Finding site | Myelinated nerve fiber structure | true | Inferred relationship | Some | 1 | |
| C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Associated morphology | Myelin sheath alteration | true | Inferred relationship | Some | 1 | |
| C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Finding site | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 2 | |
| C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR