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 |
| 4667406018 | Growth delay, intellectual disability, hepatopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4667407010 | Growth delay, intellectual disability, hepatopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4667408017 | A rare genetic syndromic intellectual disability disease with characteristics of severe intrauterine and post-natal growth delay, moderate to severe intellectual disability and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D and sensorineural hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5326531000052113 | syndrom med fördröjd tillväxt, intellektuell funktionsnedsättning och hepatopati | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Growth delay, intellectual disability, hepatopathy syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Growth delay, intellectual disability, hepatopathy syndrome | Is a | Neonatal disorder | true | Inferred relationship | Some | ||
| Growth delay, intellectual disability, hepatopathy syndrome | Is a | Disease of liver | true | Inferred relationship | Some | ||
| Growth delay, intellectual disability, hepatopathy syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Growth delay, intellectual disability, hepatopathy syndrome | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Growth delay, intellectual disability, hepatopathy syndrome | Is a | Growth retardation (disorder) | true | Inferred relationship | Some | ||
| Growth delay, intellectual disability, hepatopathy syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Growth delay, intellectual disability, hepatopathy syndrome | Occurrence | Neonatal | true | Inferred relationship | Some | 2 | |
| Growth delay, intellectual disability, hepatopathy syndrome | Finding site | Liver structure | true | Inferred relationship | Some | 2 | |
| Growth delay, intellectual disability, hepatopathy syndrome | Associated morphology | Growth retardation | true | Inferred relationship | Some | 1 | |
| Growth delay, intellectual disability, hepatopathy syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR