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Ceruloplasmin deficiency (CUI C0878682) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0878682

Semantic Type: Disease or Syndrome

GARD Definition: Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, choreaataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's.  Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
Aceruloplasminemia
Ceruloplasmin deficiency
Deficiency of caeruloplasmin
Deficiency of ceruloplasmin
Deficiency of ferroxidase (disorder)
Deficiency of ferroxidase
Hypoceruloplasminemia

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CTV3ID XU69X SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 20501 GARD
DISEASE_IDENTIFIER_ID 20504 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,3,q,2,3,-,q,2,4, OMIM
GENESYMBOL CP OMIM
HAS_GARD_PAGE true GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-02-01T00:00:00 GARD
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/9499/aceruloplasminemia/resources/1 GARD
RN 0 MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E88.0 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE 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~E88.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E83.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 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~E83.19 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU69X 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 T737931 MSH
TERMUI T737932 MSH
TERMUI T807406 MSH
TH OMIM (2013) MSH
TH ORD (2010) 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=C0878682

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