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 |
| 3324663012 | Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324664018 | Hirschsprung disease with nail hypoplasia and dysmorphism | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324665017 | Al Gazali Donnai Muller syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6289061000146116 | ziekte van Hirschsprung met nagelhypoplasie en dysmorfie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6289071000146110 | ziekte van Hirschsprung met nagelhypoplasie en dysmorfie (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7025391000146111 | syndroom van Al Gazali-Donnai-Muller | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 9 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Congenital anomaly of face bones | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Congenital anomaly of nail | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Congenital aganglionic megacolon | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | Parasympathetic nervous system structure | false | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | Autonomic nerve structure | true | Inferred relationship | Some | 5 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Associated morphology | congenitale hypertrofie (afwijkende morfologie) | false | Inferred relationship | Some | 10 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | Colon structure | false | Inferred relationship | Some | 10 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Associated morphology | congenitale dilatatie (afwijkende morfologie) | false | Inferred relationship | Some | 8 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | Colon structure | false | Inferred relationship | Some | 8 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | Bone structure of face | false | Inferred relationship | Some | 9 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Inherited autonomic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Congenital dilatation of colon | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 11 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Associated morphology | congenitale hypoplasie (afwijkende morfologie) | false | Inferred relationship | Some | 11 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | structuur van unguis (lichaamsstructuur) | false | Inferred relationship | Some | 11 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | Colon structure | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | Colon structure | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | Bone structure of face | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Associated morphology | Hypertrophy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Associated morphology | congenitale dilatatie (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | Large intestine part | false | Inferred relationship | Some | 5 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Disorder of colon (disorder) | false | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Associated morphology | Dilatation | true | Inferred relationship | Some | 4 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | Nail unit structure | true | Inferred relationship | Some | 3 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Genetic disorder of nail (disorder) | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Finding site | Structure of peripheral part of autonomic nervous system (body structure) | true | Inferred relationship | Some | 6 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 6 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
| Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR