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 |
| 3323699012 | Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323700013 | Intellectual disability, epilepsy, bulbous nose syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323701012 | Hernandez Aguirre Negrete syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323702017 | This syndrome has characteristics of major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3898251000052117 | syndrom med intellektuell funktionsnedsättning, epilepsi och bulbär näsa | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Is a | mental retardation | false | Inferred relationship | Some | ||
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 1 | |
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR