Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3736350014 | HBSL - hypomyelination, brain stem, spinal cord, leg spasticity | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736351013 | Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736352018 | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3732003010 | A rare genetic leukodystrophy disorder with characteristics of diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia and motor developmental delay as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts. Caused by homozygous or compound heterozygous mutation in the DARS gene on chromosome 2q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 898881000172111 | hypomyélinisation avec atteinte du tronc cérébral et de la moelle épinière et spasticité des jambes | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 975631000172118 | HBSL - hypomyelination with brain stem and spinal cord involvement and leg spasticity | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | Associated morphology | Myelin sheath alteration | true | Inferred relationship | Some | 2 | |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | Finding site | Myelinated nerve fiber structure | true | Inferred relationship | Some | 2 | |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | Is a | Leucodystrophy | true | Inferred relationship | Some | ||
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | Finding site | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 1 | |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR