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Achromatopsia (CUI C0152200) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0152200

NCI Thesaurus Code: C84528  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive genetic disorder affecting the cone cells of the eye. It may be complete, in which the individual can only perceive black, white, or shades or gray, or incomplete, in which the individual has a residual amount of color vision.

HPO Definition: Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. [DDD:gblack]

MSH Definition: Severely deficient color perception, typically with monochromacy and reduced visual acuity. The atypical form can include normal visual acuity with pseudomonochromacy.

Synonyms & Abbreviations: (see Synonym Details)
achromatism
Achromatopsia (disorder)
achromatopsia
Blindness color total
Blindness colour total
Complete achromatopsia
Complete color blindness
Complete colour blindness
Monochromacy
Monochromatism
Total color blindness
Total colour blindness

External Source Codes: 
NCI Thesaurus Code C84528 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID F4853 SNOMEDCT_US
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1114-9741 CSP
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HPO_COMMENT Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey. HPO
ICE Monochromatism (cone) (rod) ICD9CM
MODIFIER_ID 900000000000451002 SNOMEDCT_US
ORDER_NO 09657 ICD10CM
SID HP:0007954 HPO
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 12.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 12.0 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS H53.5 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~H53.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS H53.51 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~H53.51 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F4853 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T371302 MSH
TH NLM (2000) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0152200

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