JSON

congenital hypothyroidism

^ http://purl.obolibrary.org/obo/MONDO_0018612

A thyroid hormone deficiency present from birth. [ Orphanet:442 ]

Term info

database cross reference
  • MedDRA:10010510 (Orphanet:442/e)
  • SCTID:217710005 (MONDO:equivalentTo)
  • MESH:D003409 (Orphanet:442/e)
  • GARD:0001487 (MONDO:equivalentTo)
  • ICD9:269.3
  • UMLS:C0010308 (Orphanet:442/e)
  • ICD9:759.89
  • DOID:0050328 (MONDO:equivalentTo)
  • ICD9:243 (DOID:0050328)
  • SCTID:190268003 (MONDO:equivalentTo)
  • Orphanet:442 (MONDO:equivalentTo)
  • NCIT:C26734 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

A synonym that is historic and discouraged
cretinism [ DOID:0050328 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

closeMatch

http://identifiers.org/meddra/10010510

definition

A thyroid hormone deficiency present from birth.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050328, http://identifiers.org/snomedct/190268003, http://linkedlifedata.com/resource/umls/id/C0010308, http://purl.obolibrary.org/obo/Orphanet_442, http://purl.obolibrary.org/obo/NCIT_C26734, http://identifiers.org/snomedct/217710005, http://identifiers.org/mesh/D003409

has exact synonym

congenital iodine deficiency syndrome, congenital hypothyroidism

has related synonym

infantile hypothyroidism, fetal iodine deficiency syndrome, congenital hypothyroidism not due to iodine deficiency, congenital goiter, cretinism

id

MONDO:0018612