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Hermansky-Pudlak syndrome with pulmonary fibrosis

^ http://purl.obolibrary.org/obo/MONDO_0016501

Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis. [ Orphanet:231500 ]

Term info

database cross reference
  • ICD10CM:E70.3 (Orphanet:231500/ntbt)
  • UMLS:CN201506 (MONDO:equivalentTo)
  • Orphanet:231500 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

definition

Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN201506, http://purl.obolibrary.org/obo/Orphanet_231500

has exact synonym

HPS with pulmonary fibrosis

id

MONDO:0016501