Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5036068014 | NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036069018 | NK6 homeobox 2-related autosomal recessive hypomyelinating leucodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036070017 | NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036071018 | NKX6-2-related autosomal recessive hypomyelinating leucodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036072013 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036073015 | Autosomal recessive hypomyelinating leukodystrophy, progressive spastic ataxia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5036074014 | SPAX8 - spastic ataxia 8 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036075010 | Autosomal recessive hypomyelinating leucodystrophy, progressive spastic ataxia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5036076011 | A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy and diffuse spinal cord volume loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036077019 | A rare leucodystrophy characterised by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy and diffuse spinal cord volume loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | Decreased hearing | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | trouble neurologique chronique | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | Chronic mental disorder | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | Leukodystrophy | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | Spastic tetraplegia | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 4 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | localisation d'une constatation (attribut) | Structure of visual system (body structure) | true | Inferred relationship | Some | 5 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | localisation d'une constatation (attribut) | structure d'un membre | true | Inferred relationship | Some | 6 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 7 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 8 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 3 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 3 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | localisation d'une constatation (attribut) | Myelinated nerve fiber structure | true | Inferred relationship | Some | 1 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | morphologie associée (attribut) | Myelin sheath alteration | true | Inferred relationship | Some | 1 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | localisation d'une constatation (attribut) | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 2 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR