Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4970756012 | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4970757015 | ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4970758013 | Martsolf-like syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4970759017 | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4970760010 | A rare genetic neurometabolic disease with characteristics of early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | est un(e) (attribut) | Microcephaly (finding) | true | Inferred relationship | Some | ||
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | est un(e) (attribut) | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | est un(e) (attribut) | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | est un(e) (attribut) | trouble convulsif | true | Inferred relationship | Some | ||
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | est un(e) (attribut) | troubles du métabolisme des purines | true | Inferred relationship | Some | ||
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | est un(e) (attribut) | Chronic brain syndrome | true | Inferred relationship | Some | ||
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 3 | |
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 4 | |
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 1 | |
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR