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FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
User: [n/a]
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 |
| 3763742019 | X-linked scapuloperoneal muscular dystrophy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3763743012 | X-linked scapuloperoneal muscular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3763744018 | X-linked scapuloperoneal syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3763745017 | A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked scapuloperoneal muscular dystrophy (disorder) | Is a | Hereditary progressive muscular dystrophy | true | Inferred relationship | Some | ||
| X-linked scapuloperoneal muscular dystrophy (disorder) | Is a | Scapuloperoneal muscular dystrophy (disorder) | true | Inferred relationship | Some | ||
| X-linked scapuloperoneal muscular dystrophy (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| X-linked scapuloperoneal muscular dystrophy (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| X-linked scapuloperoneal muscular dystrophy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked scapuloperoneal muscular dystrophy (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked scapuloperoneal muscular dystrophy (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| X-linked scapuloperoneal muscular dystrophy (disorder) | Is a | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets