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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: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4695201019 | Amish nemaline myopathy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4695202014 | Amish nemaline myopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399706016 | A type of nemaline myopathy (NM) only observed in several families of the Amish community. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4695201019 | Amish nemaline myopathy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4695202014 | Amish nemaline myopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4695203016 | A type of nemaline myopathy only observed in several families of the Amish community. It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subside after 2-3 months of age. The causative gene is TNNT1 (19q13.4) and transmission follows an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399706016 | A type of nemaline myopathy (NM) only observed in several families of the Amish community. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3452661001000113 | Nemalin-Myopathie Typ Amish | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3452661001000113 | Nemalin-Myopathie Typ Amish | de | 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 |
| Amish nemaline myopathy (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Amish nemaline myopathy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Amish nemaline myopathy (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Amish nemaline myopathy (disorder) | Is a | Nemaline myopathy, early onset type | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Amish nemaline myopathy (disorder) | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)