OMOP Concept 36715519
Hirschsprung disease with nail hypoplasia and dysmorphism
StandardConditionSNOMED721223002Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Hirschsprung disease with nail hypoplasia and dysmorphism via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535615 | Al Gazali Hirschsprung syndrome | Non-standard |
Synonyms
Alternative names recorded for Hirschsprung disease with nail hypoplasia and dysmorphism across source vocabularies.
- Al Gazali Donnai Muller syndrome
- enfermedad de Hirschsprung con hipoplasia ungueal y dismorfismo
- enfermedad de Hirschsprung con hipoplasia ungueal y dismorfismo (trastorno)
- Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(120)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital aganglionic megacolon
- 1Congenital anomaly of face bones
- 1Congenital dilatation of colon
- 1Congenital hypoplasia of nail unit
- 1Developmental hereditary disorder
- 1Digestive system hereditary disorder
- 1Genetic disorder of nail
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of the integument
- 1Inherited autonomic nervous system disorder
- 1Multiple system malformation syndrome
- 2Aganglionosis of large intestine
- 2Autosomal hereditary disorder
- 2Congenital anomaly of bone of head
- 2Congenital anomaly of face
- 2Congenital anomaly of large intestine
- 2Congenital anomaly of nail
- 2Congenital dilatation of intestinal tract
- 2Congenital hypoplasia of limb
- 2Congenital hypoplasia of skin
- 2Congenital malformation syndrome
- 2Developmental disorder
- 2Dilatation of large intestine
- 2Disorder of autonomic nervous system
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