Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3324660010 | Hirschsprung disease with type D brachydactyly syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3324661014 | Hirschsprung disease with type D brachydactyly syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3324662019 | This syndrome has characteristics of Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hirschsprung disease with type D brachydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with type D brachydactyly syndrome | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 2 | |
Hirschsprung disease with type D brachydactyly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with type D brachydactyly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with type D brachydactyly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with type D brachydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with type D brachydactyly syndrome | Finding site | Colon structure | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with type D brachydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with type D brachydactyly syndrome | Finding site | Colon structure | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with type D brachydactyly syndrome | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with type D brachydactyly syndrome | Finding site | Entire digit | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with type D brachydactyly syndrome | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with type D brachydactyly syndrome | Associated morphology | Dilatation | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with type D brachydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with type D brachydactyly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with type D brachydactyly syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with type D brachydactyly syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with type D brachydactyly syndrome | Finding site | Structure of peripheral part of autonomic nervous system | true | Inferred relationship | Some | 5 | |
Hirschsprung disease with type D brachydactyly syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 5 | |
Hirschsprung disease with type D brachydactyly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Hirschsprung disease with type D brachydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Hirschsprung disease with type D brachydactyly syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Hirschsprung disease with type D brachydactyly syndrome | Is a | Brachydactyly | true | Inferred relationship | Some | ||
Hirschsprung disease with type D brachydactyly syndrome | Is a | Hirschsprung's disease | true | Inferred relationship | Some | ||
Hirschsprung disease with type D brachydactyly syndrome | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with type D brachydactyly syndrome | Finding site | Parasympathetic nervous system structure | false | Inferred relationship | Some | ||
Hirschsprung disease with type D brachydactyly syndrome | Finding site | Autonomic nerve structure | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with type D brachydactyly syndrome | Associated morphology | Congenital hypertrophy | false | Inferred relationship | Some | 7 | |
Hirschsprung disease with type D brachydactyly syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Hirschsprung disease with type D brachydactyly syndrome | Finding site | Colon structure | false | Inferred relationship | Some | 7 | |
Hirschsprung disease with type D brachydactyly syndrome | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 8 | |
Hirschsprung disease with type D brachydactyly syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Hirschsprung disease with type D brachydactyly syndrome | Finding site | Entire digit | false | Inferred relationship | Some | 8 | |
Hirschsprung disease with type D brachydactyly syndrome | Is a | Inherited autonomic nervous system disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with type D brachydactyly syndrome | Is a | Congenital dilatation of colon | true | Inferred relationship | Some | ||
Hirschsprung disease with type D brachydactyly syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Hirschsprung disease with type D brachydactyly syndrome | Finding site | Colon structure | false | Inferred relationship | Some | 9 | |
Hirschsprung disease with type D brachydactyly syndrome | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 9 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set