OMOP Concept 36716025
Acrofrontofacionasal dysostosis type 2
StandardConditionSNOMED721835008Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Acrofrontofacionasal dysostosis type 2 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C538332 | Naguib-Richieri-Costa syndrome | Non-standard |
| Nebraska Lexicon | 721835008 | Acro-fronto-facio-nasal dysostosis type 2 | Non-standard |
Synonyms
Alternative names recorded for Acrofrontofacionasal dysostosis type 2 across source vocabularies.
- Acro-fronto-facio-nasal dysostosis type 2
- Acrofrontofacionasal dysostosis type 2 (disorder)
- disostosis acrofrontofacionasal tipo 2
- disostosis acrofrontofacionasal tipo 2 (trastorno)
- Hypertelorism, hypospadias, polysyndactyly syndrome
- Naguib Richieri Costa syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(58)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital anomaly of digit
- 1Congenital dysplasia of limb
- 1Developmental hereditary disorder
- 1Dysostosis of bone of skull
- 1Genitourinary congenital anomalies
- 1Hereditary disorder of musculoskeletal system
- 1Lesion of face
- 1Multiple malformation syndrome with facial-limb defects as major feature
- 2Autosomal hereditary disorder
- 2Congenital anomaly of limb
- 2Congenital anomaly of lower trunk
- 2Congenital anomaly of skull
- 2Developmental disorder
- 2Disorder of digit
- 2Disorder of face
- 2Disorder of musculoskeletal system
- 2Disorder of the genitourinary system
- 2Dysostosis
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Multiple malformation syndrome with facial defects as major feature
- 2Multiple malformation syndrome with limb defect as major feature
- 3Congenital abnormality of lower limb and pelvic girdle
- 3Congenital abnormality of skull and face bones
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