Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5069593012 | Contactin associated protein 2-related developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5069594018 | CNTNAP2-related developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5069595017 | Cortical dysplasia, focal epilepsy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5069596016 | Contactin associated protein 2-related developmental and epileptic encephalopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5069615010 | A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behaviour and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5069616011 | A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| CNTNAP2-related developmental and epileptic encephalopathy | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| CNTNAP2-related developmental and epileptic encephalopathy | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| CNTNAP2-related developmental and epileptic encephalopathy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| CNTNAP2-related developmental and epileptic encephalopathy | Is a | Epileptic encephalopathy (disorder) | false | Inferred relationship | Some | ||
| CNTNAP2-related developmental and epileptic encephalopathy | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| CNTNAP2-related developmental and epileptic encephalopathy | Finding site | Cerebrum | false | Inferred relationship | Some | 1 | |
| CNTNAP2-related developmental and epileptic encephalopathy | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| CNTNAP2-related developmental and epileptic encephalopathy | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| CNTNAP2-related developmental and epileptic encephalopathy | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| CNTNAP2-related developmental and epileptic encephalopathy | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| CNTNAP2-related developmental and epileptic encephalopathy | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| CNTNAP2-related developmental and epileptic encephalopathy | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| CNTNAP2-related developmental and epileptic encephalopathy | Is a | Developmental and epileptic encephalopathy | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR