Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3324663012 | Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3324664018 | Hirschsprung disease with nail hypoplasia and dysmorphism | en | Synonym | Active | Case sensitive | SNOMED CT core |
3324665017 | Al Gazali Donnai Muller syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3324666016 | A fatal malformative disorder with characteristics of Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hirschsprung disease with nail hypoplasia and dysmorphism | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Colon structure | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Colon structure | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Bone structure of face | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 5 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Large intestine part | false | Inferred relationship | Some | 5 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Disorder of colon | false | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Associated morphology | Dilatation | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Nail unit structure | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Genetic disorder of nail | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 5 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Structure of peripheral part of autonomic nervous system | true | Inferred relationship | Some | 6 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 6 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 9 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Congenital anomaly of face bones | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Congenital anomaly of nail | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Hirschsprung's disease | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Inherited disorder of connective tissue | false | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Parasympathetic nervous system structure | false | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Autonomic nerve structure | true | Inferred relationship | Some | 5 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Associated morphology | Congenital hypertrophy | false | Inferred relationship | Some | 10 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Colon structure | false | Inferred relationship | Some | 10 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 8 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Colon structure | false | Inferred relationship | Some | 8 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Bone structure of face | false | Inferred relationship | Some | 9 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Inherited autonomic nervous system disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Is a | Congenital dilatation of colon | true | Inferred relationship | Some | ||
Hirschsprung disease with nail hypoplasia and dysmorphism | Occurrence | Congenital | false | Inferred relationship | Some | 11 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Associated morphology | Congenital hypoplasia | false | Inferred relationship | Some | 11 | |
Hirschsprung disease with nail hypoplasia and dysmorphism | Finding site | Nail structure | false | Inferred relationship | Some | 11 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set