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 |
| 5399940012 | 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 |
| 5399941011 | 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) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Leucodystrophy | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Spastic tetraplegia (disorder) | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Finding site | Structure of visual system (body structure) | true | Inferred relationship | Some | 5 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 6 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Finding site | Structure of auditory system (body structure) | 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) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 3 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Finding site | Myelinated nerve fiber structure | true | Inferred relationship | Some | 1 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Associated morphology | Myelin sheath alteration | true | Inferred relationship | Some | 1 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Finding site | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 2 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 9 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 9 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 10 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 10 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 11 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Interprets | Movement | true | Inferred relationship | Some | 12 | |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 11 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR