Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3764266015 | Autosomal dominant late-onset spinal muscular atrophy Finkel type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3764267012 | Autosomal dominant adult-onset proximal spinal muscular atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3764268019 | Finkel disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3764269010 | Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3764270011 | SMAFK - spinal muscular atrophy Finkel type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3764271010 | A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant adult-onset proximal spinal muscular atrophy | Is a | Spinal muscular atrophy | true | Inferred relationship | Some | ||
| Autosomal dominant adult-onset proximal spinal muscular atrophy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant adult-onset proximal spinal muscular atrophy | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| Autosomal dominant adult-onset proximal spinal muscular atrophy | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Autosomal dominant adult-onset proximal spinal muscular atrophy | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant adult-onset proximal spinal muscular atrophy | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR