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Hyperhomocysteinemia (CUI C0598608) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0598608

NCI Thesaurus Code: C84770  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.

NICHD Definition: Abnormally high level of homocysteine in the blood.

MSH Definition: Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 ?mol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy.

Synonyms & Abbreviations: (see Synonym Details)
Hyperhomocysteinaemia
Hyperhomocysteinemia (disorder)
Hyperhomocysteinemia [Disease/Finding]
Hyperhomocysteinemias
hyperhomocysteinemia

External Source Codes: 
NCI Thesaurus Code C84770 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source MedDRA NCI
Contributing_Source NICHD NCI
CTV3ID XUdBO SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-0835 CSP
DX 19990101 MSH
EFFECTIVE_TIME 20060131 SNOMEDCT_US
HN 1999 MSH
MDA 19980610 MSH
MESH_DEFINITION Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 ?mol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy. NDFRT
MESH_DUI D020138 NDFRT
MESH_NAME Hyperhomocysteinemia NDFRT
MESH_UI M0029877 NDFRT
MMR 20090706 MSH
MN C16.320.565.100.480 MSH
MN C18.452.603.378 MSH
MN C18.452.648.100.480 MSH
MN C18.654.521.500.133.699.418 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Hyperhomocysteinemia NCI
NUI N0000003996 NDFRT
PM 1999 MSH
PRIMARY_PATH 10051286$10036999$10037008$10027433$Hyperhomocysteinaemia$Amino acid metabolism disorders NEC$Protein and amino acid metabolism disorders NEC$Metabolism and nutrition disorders MDR
PRIMARY_SOC 10027433 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RXAUI 3174286 RXNORM
RXAUI 3174287 RXNORM
RXCUI 1029294 RXNORM
SNOMED_CID 419503008 NDFRT
SNOMEDID D6-B400C SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E72.1 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~E72.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E72.11 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~E72.11 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUdBO SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-B400C SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T059935 MSH
TH NLM (1999) 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=C0598608

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