Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3706245018 | Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706246017 | Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 10132241000146118 | syndroom van autisme en epilepsie door deficiëntie van vertakteketen-ketozuurdehydrogenasekinase (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10132251000146115 | syndroom van autisme en epilepsie door deficiëntie van vertakteketen-ketozuurdehydrogenasekinase | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10132261000146117 | syndroom van autisme en epilepsie door tekort aan vertakteketen-ketozuurdehydrogenasekinase | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10132271000146111 | syndroom van autisme en epilepsie door vertakteketen-ketozuurdehydrogenasekinasedeficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3706247014 | A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Is a | Epilepsy | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Is a | epileptische aanval op kinderleeftijd | false | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Is a | Autistic disorder of childhood onset | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Is a | Disorder of branched-chain amino acid metabolism | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Occurrence | Childhood | true | Inferred relationship | Some | 2 | |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR