Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3646023013 | Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3646024019 | Ataxia, delayed dentition, hypomyelination syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3646025018 | Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3646026017 | Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | est un(e) (attribut) | Hereditary degenerative disease of central nervous system | false | Inferred relationship | Some | ||
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | est un(e) (attribut) | 4H leukodystrophy (disorder) | true | Inferred relationship | Some | ||
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | est un(e) (attribut) | Malformation of tooth (disorder) | true | Inferred relationship | Some | ||
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | est un(e) (attribut) | Late tooth eruption | true | Inferred relationship | Some | ||
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | true | Inferred relationship | Some | 5 | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 6 | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | localisation d'une constatation (attribut) | dent (structure corporelle) | true | Inferred relationship | Some | 4 | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | morphologie associée (attribut) | Maturation deceleration (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | est un(e) (attribut) | Congenital disease | false | Inferred relationship | Some | ||
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | est un(e) (attribut) | Leukodystrophy | false | Inferred relationship | Some | ||
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | est un(e) (attribut) | atrophie cérébrale | true | Inferred relationship | Some | ||
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | est un(e) (attribut) | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | morphologie associée (attribut) | Myelin sheath alteration | true | Inferred relationship | Some | 2 | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | morphologie associée (attribut) | atrophie (anomalie morphologique) | true | Inferred relationship | Some | 1 | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 1 | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | localisation d'une constatation (attribut) | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 3 | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | localisation d'une constatation (attribut) | Myelinated nerve fiber structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR