Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5045247013 | Isolated neonatal sclerosing cholangitis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5045248015 | Isolated neonatal sclerosing cholangitis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399956019 | Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399957011 | Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterised by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Isolated neonatal sclerosing cholangitis (disorder) | Is a | Neonatal disorder | true | Inferred relationship | Some | ||
| Isolated neonatal sclerosing cholangitis (disorder) | Is a | Sclerosing cholangitis | true | Inferred relationship | Some | ||
| Isolated neonatal sclerosing cholangitis (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Isolated neonatal sclerosing cholangitis (disorder) | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some | ||
| Isolated neonatal sclerosing cholangitis (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Isolated neonatal sclerosing cholangitis (disorder) | Occurrence | Neonatal | true | Inferred relationship | Some | 1 | |
| Isolated neonatal sclerosing cholangitis (disorder) | Finding site | Biliary tract structure | true | Inferred relationship | Some | 1 | |
| Isolated neonatal sclerosing cholangitis (disorder) | Associated morphology | Sclerosing inflammation | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR