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attenuated Chédiak-Higashi syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018133

Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. [ Orphanet:352723 ]

Term info

database cross reference
  • ICD10CM:E70.3 (Orphanet:352723/ntbt)
  • Orphanet:352723 (MONDO:equivalentTo)
  • SCTID:720520009 (MONDO:equivalentTo)
  • UMLS:C4304022 (MONDO:equivalentTo)
  • UMLS:CN204519 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_352723, http://linkedlifedata.com/resource/umls/id/CN204519, http://linkedlifedata.com/resource/umls/id/C4304022, http://identifiers.org/snomedct/720520009

has exact synonym

atypical Chédiak-Higashi syndrome, attenuated Chediak-Higashi syndrome, atypical Chediak-Higashi syndrome

id

MONDO:0018133