Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4963754012 | Palmer Pagon syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4963755013 | Congenital hydrocephalus, low insertion of umbilicus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4963757017 | Congenital hydrocephalus, low insertion of umbilicus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4963756014 | A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad flat nasal bridge and small bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Is a | Congenital umbilical defect | true | Inferred relationship | Some | ||
Congenital hydrocephalus, low insertion of umbilicus syndrome | Is a | Congenital hydrocephalus | true | Inferred relationship | Some | ||
Congenital hydrocephalus, low insertion of umbilicus syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Congenital hydrocephalus, low insertion of umbilicus syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
Congenital hydrocephalus, low insertion of umbilicus syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Finding site | Brain cerebrospinal fluid pathway | true | Inferred relationship | Some | 1 | |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Associated morphology | Dilatation | true | Inferred relationship | Some | 1 | |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Finding site | Umbilical structure | true | Inferred relationship | Some | 2 | |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Congenital hydrocephalus, low insertion of umbilicus syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets