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achromatopsia

Go to external page http://purl.obolibrary.org/obo/MONDO_0018852

Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. [ Orphanet:49382 ]

Synonyms: Rod monochromatism monochromatism complete or incomplete colour blindness Rod monochromacy total colour blindness complete or incomplete color blindness ACHM Pingelapese blindness achromatopsia total color blindness

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10CM:H53.51 (MONDO:equivalentTo)
  • Orphanet:49382 (MONDO:equivalentTo)
  • NCIT:C84528 (MONDO:equivalentTo)
  • DOID:13911 (MONDO:equivalentTo)
  • SCTID:102450007 (MONDO:equivalentTo)
  • MEDGEN:57751 (MONDO:equivalentTo)
  • MedDRA:10000454 (Orphanet:49382/e)
  • UMLS:C0152200 (MONDO:equivalentTo)
  • GARD:15015 (MONDO:GARD)
  • ICD9:368.54 (DOID:13911)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen

UK spelling synonym
complete or incomplete colour blindness

abbreviation
ACHM [ Orphanet:49382 DOID:13911 ]

ClinGen label
achromatopsia

UK spelling synonym
total colour blindness

closeMatch

http://identifiers.org/meddra/10000454

comment

Editor note: we include incomplete forms here, such as BCM

exactMatch

http://www.orpha.net/ORDO/Orphanet_49382

http://purl.bioontology.org/ontology/ICD10CM/H53.51

http://purl.obolibrary.org/obo/NCIT_C84528

http://purl.obolibrary.org/obo/DOID_13911

http://identifiers.org/snomedct/102450007

http://identifiers.org/medgen/57751

http://linkedlifedata.com/resource/umls/id/C0152200

id

MONDO:0018852