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Chediak-Higashi syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008963

ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. [ Orphanet:167 ]

Term info

database cross reference
  • UMLS:C0007965 (Orphanet:167/e)
  • GARD:0006035 (MONDO:equivalentTo)
  • Orphanet:167 (OMIM:214500)
  • SCTID:111396008 (MONDO:equivalentTo)
  • DOID:2935 (MONDO:equivalentTo)
  • MedDRA:10008415 (Orphanet:167/e)
  • ICD10CM:E70.3 (Orphanet:167/ntbt)
  • ICD10CM:E70.330 (MONDO:equivalentTo)
  • OMIM:214500 (Orphanet:167/e)
  • NCIT:C2941 (MONDO:equivalentTo)
  • MESH:D002609 (Orphanet:167/e)
Subsets

gard_rare, ordo_disease

abbreviation
CHS [ DOID:2935 MONDO:Lexical OMIM:214500 ]

closeMatch

http://identifiers.org/meddra/10008415

definition

ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0007965, http://purl.obolibrary.org/obo/Orphanet_167, http://identifiers.org/mesh/D002609, http://purl.obolibrary.org/obo/NCIT_C2941, https://omim.org/entry/214500, http://identifiers.org/snomedct/111396008, http://purl.obolibrary.org/obo/DOID_2935, http://purl.bioontology.org/ontology/ICD10CM/E70.330

has exact synonym

ChC)diak-Higashi disease, Chédiak-Higashi disease, Chediak-Higashi syndrome, ChC)diak-Higashi-Steinbrink syndrome, Chédiak-Higashi-Steinbrink syndrome, Chediak - Steinbrinck anomaly, CHS

has related synonym

Chédiak-Higashi syndrome, Chediak Higashi syndrome

id

MONDO:0008963

seeAlso

https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome