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 |
| 1021351000172113 | syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3331798014 | Celiac disease with epilepsy and cerebral calcification syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331799018 | Celiac disease with epilepsy and cerebral calcification syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331800019 | Coeliac disease with epilepsy and cerebral calcification syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 758641000241116 | syndrome de maladie coeliaque-calcifications cérébrales-épilepsie (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 976221000172113 | CEC - celiac disease, epilepsy, cerebral calcification syndrome | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3331801015 | A rare disorder characterized by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Celiac disease and epilepsy manifest at a variable age. Celiac disease can present in a typical form with onset in the first 2 years of life. Celiac disease may also present in silent or latent forms, which are characterized in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of celiac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331802010 | A rare disorder characterised by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Coeliac disease and epilepsy manifest at a variable age. Coeliac disease can present in a typical form with onset in the first 2 years of life. Coeliac disease may also present in silent or latent forms, which are characterised in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of coeliac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | est un(e) (attribut) | calcification cérébrale | true | Inferred relationship | Some | ||
| syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | est un(e) (attribut) | Epilepsy | true | Inferred relationship | Some | ||
| syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | est un(e) (attribut) | Autoimmune disease | true | Inferred relationship | Some | ||
| syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | est un(e) (attribut) | Celiac disease (disorder) | true | Inferred relationship | Some | ||
| syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | est défini par la manifestation de (attribut) | convulsion | false | Inferred relationship | Some | ||
| syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | morphologie associée (attribut) | Pathologic calcification, calcified structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 4 | |
| syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | Causative agent | Gluten | true | Inferred relationship | Some | 5 | |
| syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | localisation d'une constatation (attribut) | intestins | true | Inferred relationship | Some | 5 | |
| syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR