Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4667440018 | Infantile inflammatory bowel disease with neurological involvement (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4667441019 | Infantile inflammatory bowel disease with neurological involvement | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4667442014 | A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation as well as decreased T-cell subsets have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4667443016 | A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation as well as decreased T-cell subsets 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 |
| Infantile inflammatory bowel disease with neurological involvement (disorder) | est un(e) (attribut) | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Infantile inflammatory bowel disease with neurological involvement (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Infantile inflammatory bowel disease with neurological involvement (disorder) | est un(e) (attribut) | maladie inflammatoire de l'intestin | true | Inferred relationship | Some | ||
| Infantile inflammatory bowel disease with neurological involvement (disorder) | est un(e) (attribut) | atrophie cérébrale | true | Inferred relationship | Some | ||
| Infantile inflammatory bowel disease with neurological involvement (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Infantile inflammatory bowel disease with neurological involvement (disorder) | est un(e) (attribut) | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Infantile inflammatory bowel disease with neurological involvement (disorder) | est un(e) (attribut) | Primary immune deficiency disorder (disorder) | true | Inferred relationship | Some | ||
| Infantile inflammatory bowel disease with neurological involvement (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Infantile inflammatory bowel disease with neurological involvement (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Infantile inflammatory bowel disease with neurological involvement (disorder) | survenue (attribut) | Infancy (qualifier value) | true | Inferred relationship | Some | 2 | |
| Infantile inflammatory bowel disease with neurological involvement (disorder) | morphologie associée (attribut) | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Infantile inflammatory bowel disease with neurological involvement (disorder) | Pathological process (attribute) | Dysregulated host response | true | Inferred relationship | Some | 2 | |
| Infantile inflammatory bowel disease with neurological involvement (disorder) | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 1 | |
| Infantile inflammatory bowel disease with neurological involvement (disorder) | morphologie associée (attribut) | atrophie (anomalie morphologique) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR