Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3312727019 | Moyamoya disease with early onset achalasia (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3312728012 | Moyamoya disease with early onset achalasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401750019 | Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401751015 | Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterised by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Moyamoya disease with early onset achalasia (disorder) | Is a | Achalasia of esophagus | true | Inferred relationship | Some | ||
| Moyamoya disease with early onset achalasia (disorder) | Is a | Moyamoya disease | true | Inferred relationship | Some | ||
| Moyamoya disease with early onset achalasia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Moyamoya disease with early onset achalasia (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Moyamoya disease with early onset achalasia (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Moyamoya disease with early onset achalasia (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Moyamoya disease with early onset achalasia (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 2 | |
| Moyamoya disease with early onset achalasia (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 5 | |
| Moyamoya disease with early onset achalasia (disorder) | Finding site | Cardioesophageal junction structure | true | Inferred relationship | Some | 3 | |
| Moyamoya disease with early onset achalasia (disorder) | Finding site | Cerebrovascular system structure | true | Inferred relationship | Some | 4 | |
| Moyamoya disease with early onset achalasia (disorder) | Finding site | Oesophageal structure | false | Inferred relationship | Some | 1 | |
| Moyamoya disease with early onset achalasia (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 1 | |
| Moyamoya disease with early onset achalasia (disorder) | Interprets | Motility (observable entity) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR