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 |
| 3774808014 | Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3774809018 | ANK3-related intellectual disability, sleep disturbance syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3774810011 | Ankyrin 3 related intellectual disability, sleep disturbance syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3775520017 | A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3775521018 | A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioural problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) | Is a | Dyssomnia | true | Inferred relationship | Some | ||
| Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Ankyrin 3 related intellectual disability, sleep disturbance 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