Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. [ Orphanet:95716 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E03.0 (Orphanet:95716)
  • MESH:C564766 (MONDO:equivalentTo)
  • UMLS:C1848805 (OMIM:274400)
  • Orphanet:95716 (OMIM:274400)
  • ICD10:E03.1 (Orphanet:95716)
  • NCIT:C121751 (MONDO:equivalentTo)
  • SCTID:718183003 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C121751

http://www.orpha.net/ORDO/Orphanet_95716

http://linkedlifedata.com/resource/umls/id/C1848805

http://identifiers.org/snomedct/718183003

http://identifiers.org/mesh/C564766

has broad synonym

dyshormonogenesis

has exact synonym

thyroid dyshormonogenesis

id

MONDO:0010132