Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3704578010 | Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3704579019 | Hepatic fibrosis, renal cyst, intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3704580016 | Thompson Baraitser syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3704581017 | A rare syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3704582012 | A rare syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Is a | Congenital anomaly of liver | false | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Is a | Polycystic kidney disease | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 4 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 5 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Is a | Congenital renal cyst | false | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Is a | Congenital hepatic fibrosis | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Associated morphology | Fibrosis | true | Inferred relationship | Some | 3 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Finding site | Liver structure | true | Inferred relationship | Some | 3 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Associated morphology | Polycystic change | true | Inferred relationship | Some | 2 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Finding site | Kidney structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR