Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3433517012 | Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3433518019 | Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3433519010 | Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3433520016 | NISCH (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3433521017 | NISCH syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403296018 | Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403297010 | Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterised by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Is a | Congenital hypotrichia | true | Inferred relationship | Some | ||
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Is a | Sclerosing cholangitis | true | Inferred relationship | Some | ||
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Is a | Autosomal recessive ichthyosis (disorder) | true | Inferred relationship | Some | ||
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Associated morphology | Congenital hypoplasia | false | Inferred relationship | Some | 3 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 3 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Associated morphology | Inflammation | false | Inferred relationship | Some | 5 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Finding site | Biliary tract structure | true | Inferred relationship | Some | 5 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Is a | Congenital abnormality of liver and/or biliary tract (disorder) | false | Inferred relationship | Some | ||
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 2 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Associated morphology | Inflammation | false | Inferred relationship | Some | 1 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Finding site | Biliary tract structure | true | Inferred relationship | Some | 1 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 2 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Interprets | Keratinization | true | Inferred relationship | Some | 4 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 4 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Associated morphology | Sclerosing inflammation | true | Inferred relationship | Some | 5 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Finding site | Entire skin | true | Inferred relationship | Some | 3 | |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) | Is a | Congenital anomaly of biliary tract | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)