OMOP Concept 36716026
Hypertelorism with microtia and facial clefting syndrome
StandardConditionSNOMED721836009Disorder
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 Hypertelorism with microtia and facial clefting syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537632 | Bixler Christian Gorlin syndrome | Non-standard |
| Nebraska Lexicon | 721836009 | Hypertelorism with microtia and facial clefting syndrome | Non-standard |
Synonyms
Alternative names recorded for Hypertelorism with microtia and facial clefting syndrome across source vocabularies.
- Bixler Christian Gorlin syndrome
- HMC (hypertelorism, microtia, clefting) syndrome
- Hypertelorism with microtia and facial clefting syndrome (disorder)
- síndrome de hipertelorismo con microtia y hendidura facial
- síndrome de hipertelorismo con microtia y hendidura facial (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(92)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal recessive hereditary disorder
- 1Cleft palate with cleft lip
- 1Developmental hereditary disorder
- 1Digestive system hereditary disorder
- 1Hereditary disorder of musculoskeletal system
- 1Hypertelorism
- 1Microtia
- 1Multiple malformation syndrome with facial defects as major feature
- 2Autosomal hereditary disorder
- 2Cleft lip
- 2Cleft palate
- 2Congenital abnormality of external ear
- 2Congenital anomaly of face
- 2Congenital anomaly of skull
- 2Developmental disorder
- 2Disorder of auditory system
- 2Disorder of digestive system
- 2Disorder of musculoskeletal system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Multiple system malformation syndrome
- 3Congenital abnormality of skull and face bones
- 3Congenital anomaly of head
- 3Congenital anomaly of lip
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