Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3305556019 | Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305557011 | Muscular pseudohypertrophy and hypothyroidism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305558018 | Hoffman syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3305559014 | Kocher Debre Semelaigne syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3305568011 | A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3877371000052111 | Hoffmans syndrom | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) | Is a | Hypothyroidism | true | Inferred relationship | Some | ||
| Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
| Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) | Is a | Pseudohypertrophy of muscle | true | Inferred relationship | Some | ||
| Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) | Finding site | Thyroid structure | true | Inferred relationship | Some | 1 | |
| Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) | Associated morphology | Pseudohypertrophy | true | Inferred relationship | Some | 2 | |
| Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR