OMOP Concept 36717151
Hirschsprung disease with deafness and polydactyly syndrome
StandardConditionSNOMED721221000Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Hirschsprung disease with deafness and polydactyly syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537235 | Santos Mateus Leal syndrome | Non-standard |
| Nebraska Lexicon | 721221000 | Hirschsprung disease with deafness and polydactyly syndrome | Non-standard |
Synonyms
Alternative names recorded for Hirschsprung disease with deafness and polydactyly syndrome across source vocabularies.
- Hirschsprung disease with deafness and polydactyly syndrome (disorder)
- Santos Mateus Leal syndrome
- síndrome de enfermedad de Hirschsprung con sordera y polidactilia
- síndrome de enfermedad de Hirschsprung con sordera y polidactilia (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(88)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal recessive hereditary disorder
- 1Congenital aganglionic megacolon
- 1Congenital dilatation of colon
- 1Congenital hearing disorder
- 1Developmental hereditary disorder
- 1Digestive system hereditary disorder
- 1Hearing loss associated with syndrome
- 1Inherited autonomic nervous system disorder
- 1Multiple malformation syndrome with limb defect as major feature
- 1Polydactyly
- 2Aganglionosis of large intestine
- 2Autosomal hereditary disorder
- 2Congenital anomaly of digit
- 2Congenital anomaly of large intestine
- 2Congenital anomaly of the peripheral nervous system
- 2Congenital dilatation of intestinal tract
- 2Congenital disease
- 2Developmental disorder
- 2Dilatation of large intestine
- 2Disorder of auditory system
- 2Disorder of autonomic nervous system
- 2Disorder of colon
- 2Disorder of digestive system
- 2Hearing disorder
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