Terminology Service for NFDI4Health
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Holt-Oram syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007732

Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. [ ]

Term info

Label

Holt-Oram syndrome

Synonyms
  • HOS
  • Holt-Oram syndrome
  • atriodigital dysplasia type 1
  • heart-hand syndrome type 1
database cross reference
Subsets

ordo_malformation_syndrome

closeMatch

http://identifiers.org/meddra/10050469

exactMatch

http://purl.obolibrary.org/obo/DOID_0060468, http://identifiers.org/mesh/C535326, http://identifiers.org/snomedct/19092004, http://purl.obolibrary.org/obo/NCIT_C125592, http://purl.obolibrary.org/obo/Orphanet_392, https://omim.org/entry/142900, http://linkedlifedata.com/resource/umls/id/C0265264

has broad synonym

atrio-digital syndrome, atrio digital syndrome, heart-hand syndrome, atriodigital dysplasia

has related synonym

ventriculo-radial syndrome, HOLT-Oram syndrome, HOS 1, Hos1, Cardiac-limb syndrome, heart-hand syndrome, type 1

id

MONDO:0007732

narrowMatch

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

see also

https://github.com/monarch-initiative/mondo/issues/4948