Terminology Service for NFDI4Health

heart-hand syndrome type 3

Go to external page http://purl.obolibrary.org/obo/MONDO_0007702


Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. [ ]

Term info

Label

heart-hand syndrome type 3

Synonyms
  • Cardiomelic syndrome type 3
  • atriodigital dysplasia type 3
  • heart-hand syndrome, Spanish type
  • heart-limb syndrome type 3
database cross reference
Subsets

ordo_malformation_syndrome

exactMatch

http://identifiers.org/mesh/C535853, http://purl.obolibrary.org/obo/Orphanet_1342, http://linkedlifedata.com/resource/umls/id/C1841657, https://omim.org/entry/140450, http://identifiers.org/snomedct/721013001

has related synonym

upper limb malformations and congenital cardiac anomalies, brachydactyly and intraventricular conduction defect

id

MONDO:0007702

narrowMatch

https://icd.codes/icd10cm/Q87.2

Term relations

Subclass of: