Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704579019 | Hepatic fibrosis, renal cyst, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704580016 | Thompson Baraitser syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Inactive | Entire term case sensitive (core metadata concept) | 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405012011 | Hepatic fibrosis-renal cysts-intellectual disability syndrome is 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405013018 | Hepatic fibrosis-renal cysts-intellectual disability syndrome is 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Congenital renal cyst (disorder) | false | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Congenital hepatic fibrosis | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Associated morphology | Fibrosis | true | Inferred relationship | Some | 3 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Finding site | Liver structure | true | Inferred relationship | Some | 3 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Associated morphology | Polycystic change | true | Inferred relationship | Some | 2 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 2 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of liver | false | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Congenital cystic kidney disease (disorder) | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Genetic intellectual disability | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR