congenital radioulnar synostosis
Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living. [ Orphanet:3269 ]
Term info
- Orphanet:3269 (OMIM:179300)
- GARD:0010876 (MONDO:equivalentTo)
- GARD:0004630 (MONDO:equivalentTo)
- DOID:9827 (MONDO:equivalentTo)
- HP:0002974 (MONDO:otherHierarchy)
- SCTID:33313004 (MONDO:equivalentTo)
- MESH:C562408 (MONDO:equivalentTo)
- ICD9:755.53 (MONDO:i2s)
gard_rare, ordo_morphological_anomaly
https://github.com/monarch-initiative/mondo/issues/4069, https://github.com/monarch-initiative/mondo/issues/4521
Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.
http://purl.obolibrary.org/obo/Orphanet_3269, http://identifiers.org/mesh/C562408, http://purl.obolibrary.org/obo/DOID_9827, http://identifiers.org/snomedct/33313004
radioulnar synostosis, radioulnar fusion, radioulnar synostosis (disease)
proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius, radio-ulnar synostosis type 1, radio-ulnar synostosis, radial-ulnar synostosis
MONDO:0017985