OMOP Concept 36714978
Acrofacial dysostosis Catania type
StandardConditionSNOMED720419000Disorder
Maps from
1
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
1 source code normalizes to Acrofacial dysostosis Catania type via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C538182 | Acrofacial dysostosis Catania form | Non-standard |
Synonyms
Alternative names recorded for Acrofacial dysostosis Catania type across source vocabularies.
- Acrofacial dysostosis Catania type (disorder)
- disostosis acrofacial tipo Catania
- disostosis acrofacial tipo Catania (trastorno)
- Opitz Caltabiano syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(47)Roll up to these when you need a wider cohort.
- 1Congenital anomaly of face bones
- 1Congenital dysplasia of limb
- 1Developmental hereditary disorder
- 1Dysostosis
- 1Hereditary disorder of musculoskeletal system
- 1Lesion of face
- 1Multiple malformation syndrome with facial-limb defects as major feature
- 1Structural abnormality of bone of limb
- 2Congenital anomaly of bone of head
- 2Congenital anomaly of face
- 2Congenital anomaly of limb
- 2Congenital anomaly of skeletal bone
- 2Developmental disorder
- 2Disorder of bone
- 2Disorder of face
- 2Disorder of facial bone
- 2Disorder of limb
- 2Disorder of musculoskeletal system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Lesion of bone
- 2Multiple malformation syndrome with facial defects as major feature
- 2Multiple malformation syndrome with limb defect as major feature
- 2Skeletal dysplasia
- 2Structural abnormality of skeleton
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