OMOP Concept 36714970
Acrofrontofacionasal dysostosis
StandardConditionSNOMED720408003Disorder
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 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C538186 | Acrofrontofacionasal dysostosis syndrome | Non-standard |
| Nebraska Lexicon | 720408003 | Acro-fronto-facio-nasal dysostosis | Non-standard |
Synonyms
Alternative names recorded for Acrofrontofacionasal dysostosis across source vocabularies.
- Acro-fronto-facio-nasal dysostosis
- Acrofrontofacionasal dysostosis (disorder)
- disostosis acrofrontofacionasal
- disostosis acrofrontofacionasal (trastorno)
- Richieri Costa Colletto syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(46)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital dysplasia of limb
- 1Developmental hereditary disorder
- 1Dysostosis of bone of skull
- 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 skull
- 2Developmental disorder
- 2Disorder of face
- 2Disorder of musculoskeletal 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 skull and face bones
- 3Congenital anomaly of face
- 3Congenital anomaly of skeletal bone
- 3Congenital malformation
- 3Disease
- 3Disorder of body system
- 3Disorder of head
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