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 |
| 770741000241113 | syndrome d'autisme-épilepsie par défict en kinase déshydrogénase des cétoacides à chaînes ramifiées (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 875911000172111 | syndrome d'autisme-épilepsie par défict en kinase déshydrogénase des cétoacides à chaînes ramifiées | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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) | est un(e) (attribut) | Epilepsy | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | est un(e) (attribut) | Childhood seizure (finding) | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | est un(e) (attribut) | trouble autistique apparaissant durant l'enfance | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | est un(e) (attribut) | Disorder of branched-chain amino acid metabolism | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | survenue (attribut) | enfance | true | Inferred relationship | Some | 1 | |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | localisation d'une constatation (attribut) | structure du cerveau | 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) | survenue (attribut) | enfance | true | Inferred relationship | Some | 2 | |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR