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combined pituitary hormone deficiencies, genetic form

^ http://purl.obolibrary.org/obo/MONDO_0013099

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. [ Orphanet:95494 ]

Term info

database cross reference
  • OMIMPS:613038 (MONDO:equivalentTo)
  • Orphanet:95494 (OMIM:613038)
  • ICD10CM:E23.0 (Orphanet:95494/ntbt)
  • GARD:0010602 (MONDO:equivalentTo)
  • GARD:0002252 (MONDO:equivalentTo)
  • SCTID:718182008 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

definition

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

exactMatch

https://omim.org/phenotypicSeries/PS613038, http://purl.obolibrary.org/obo/Orphanet_95494, http://identifiers.org/snomedct/718182008

has exact synonym

multiple pituitary hormone deficiencies, genetic forms, pituitary hormone deficiency, combined, familial congenital hypopituitarism, genetic hypopituitarism

has related synonym

combined pituitary hormone deficiencies, genetic forms, familial hypopituitarism

id

MONDO:0013099

seeAlso

https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism