Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324661014 | Hirschsprung disease with type D brachydactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6842101000146113 | syndroom van ziekte van Hirschsprung en brachydactylie type D | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6842111000146110 | syndroom van ziekte van Hirschsprung en brachydactylie type D (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Is a | Brachydactyly | true | Inferred relationship | Some | ||
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Is a | Congenital aganglionic megacolon | true | Inferred relationship | Some | ||
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Finding site | Parasympathetic nervous system structure | false | Inferred relationship | Some | ||
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Finding site | Autonomic nerve structure | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Associated morphology | congenitale hypertrofie (afwijkende morfologie) | false | Inferred relationship | Some | 7 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Finding site | Colon structure | false | Inferred relationship | Some | 7 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 8 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Finding site | Entire digit | false | Inferred relationship | Some | 8 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Is a | Inherited autonomic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Is a | Congenital dilatation of colon | true | Inferred relationship | Some | ||
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Finding site | Colon structure | false | Inferred relationship | Some | 9 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Associated morphology | congenitale dilatatie (afwijkende morfologie) | false | Inferred relationship | Some | 9 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Associated morphology | congenitale dilatatie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Finding site | Colon structure | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Finding site | Colon structure | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Finding site | Entire digit | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Associated morphology | Hypertrophy (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Associated morphology | Dilatation | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Finding site | Structure of peripheral part of autonomic nervous system (body structure) | true | Inferred relationship | Some | 5 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Hirschsprung disease with type D brachydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR