OMOP Concept 36714977
Acrocraniofacial dysostosis
StandardConditionSNOMED720418008Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
2 source codes normalize to Acrocraniofacial dysostosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C536892 | Kaplan Plauchu Fitch syndrome | Non-standard |
| Nebraska Lexicon | 720418008 | Acrocraniofacial dysostosis | Non-standard |
Synonyms
Alternative names recorded for Acrocraniofacial dysostosis across source vocabularies.
- Acrocraniofacial dysostosis (disorder)
- disostosis acrocraneofacial
- disostosis acrocraneofacial (trastorno)
- Kaplan Plauchu Fitch syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(44)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Developmental hereditary disorder
- 1Dysostosis of bone of skull
- 1Hereditary disorder of musculoskeletal system
- 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 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 limb
- 3Disorder of skull
- 3Genetic disease
- 3Multiple system malformation syndrome
Get this concept via the API
Resolve Acrocraniofacial dysostosis - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/36714977?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card