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 |
| 3324656012 | Hirschsprung disease with deafness and polydactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324657015 | Hirschsprung disease with deafness and polydactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324658013 | Santos Mateus Leal syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6842071000146117 | syndroom van ziekte van Hirschsprung, doofheid en polydactylie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6842081000146115 | syndroom van Santos-Mateus-Leal | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6842091000146118 | syndroom van ziekte van Hirschsprung, doofheid en polydactylie (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3324659017 | An extremely rare malformative association, described in only two siblings to date with characteristics of Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. | 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 deafness and polydactyly syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Congenital aganglionic megacolon | true | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Polydactyly (disorder) | true | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Finding site | Parasympathetic nervous system structure | false | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Finding site | Autonomic nerve structure | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 5 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Finding site | Colon structure | false | Inferred relationship | Some | 8 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Finding site | Colon structure | false | Inferred relationship | Some | 9 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Associated morphology | congenitale dilatatie (afwijkende morfologie) | false | Inferred relationship | Some | 8 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Associated morphology | congenitale hypertrofie (afwijkende morfologie) | false | Inferred relationship | Some | 9 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Inherited autonomic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Congenital dilatation of colon | true | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Associated morphology | Supernumerary structure | false | Inferred relationship | Some | 10 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Finding site | Digit structure | false | Inferred relationship | Some | 10 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Finding site | Colon structure | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Finding site | Colon structure | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Associated morphology | congenitale dilatatie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Associated morphology | Hypertrophy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Associated morphology | Dilatation | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 5 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 6 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Finding site | Structure of peripheral part of autonomic nervous system (body structure) | true | Inferred relationship | Some | 7 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Congenital hearing loss (disorder) | true | Inferred relationship | Some | ||
| Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Is a | Disorder of sensory function (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR