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 | Active | 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 | 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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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) | est un(e) (attribut) | anomalie congénitale des reins | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | est un(e) (attribut) | 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) | est un(e) (attribut) | Multiple congenital cysts of kidney | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital renal cyst (disorder) | false | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital hepatic fibrosis | true | Inferred relationship | Some | ||
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Fibrosis | true | Inferred relationship | Some | 3 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | foie | true | Inferred relationship | Some | 3 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Polycystic change | true | Inferred relationship | Some | 2 | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un rein | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR