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Inherited Factor II deficiency (CUI C0020640) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0020640

NCI Thesaurus Code: C131737  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood.

MSH Definition: Absence or reduced levels of PROTHROMBIN in the blood.

NICHD Definition: A coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood.

CSP Definition: absence or reduced levels of prothrombin in the blood.

Synonyms & Abbreviations: (see Synonym Details)
Congenital factor II deficiency
DEFIC FACTOR II
Deficiencies, Factor II
Deficiencies, Prothrombin
Deficiency, Factor II
Deficiency, Prothrombin
Factor II Deficiencies
Factor II deficiency (disorder)
Factor II deficiency
FACTOR II DEFIC
Hypoprothrombinaemia
Hypoprothrombinemia, inherited
Hypoprothrombinemias [Disease/Finding]
Hypoprothrombinemias
hypoprothrombinemia
Inherited Factor II deficiency
Inherited hypoprothrombinemia
Inherited prothrombin deficiency
Prothrombin Deficiencies
PROTHROMBIN DEFICIENCY, CONGENITAL
Prothrombin deficiency
PROTHROMBIN DEFIC

External Source Codes: 
NCI Thesaurus Code C131737 (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
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID XE141 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 0438-7564 CSP
DISEASE_IDENTIFIER_ID 10680 GARD
DISEASE_IDENTIFIER_ID 10681 GARD
DISEASE_IDENTIFIER_ID 10683 GARD
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,1,p,1,1,-,q,1,2, OMIM
GENESYMBOL F2 OMIM
GENESYMBOL RPRGL2 OMIM
GENESYMBOL THPH1 OMIM
HAS_GARD_PAGE true GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION Absence or reduced levels of PROTHROMBIN in the blood. NDFRT
MESH_DUI D007020 NDFRT
MESH_NAME Hypoprothrombinemias NDFRT
MESH_UI M0010925 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C15.378.100.100.550 MSH
MN C15.378.100.141.550 MSH
MN C15.378.463.550 MSH
MN C16.320.099.550 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Factor II Deficiency NCI
NUI N0000001647 NDFRT
PRIMARY_PATH 10016076$10009735$10005330$10010331$Factor II deficiency$Coagulation disorders congenital$Blood and lymphatic system disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_PATH 10021085$10009737$10064477$10005329$Hypoprothrombinaemia$Coagulation factor deficiencies$Coagulopathies and bleeding diatheses (excl thrombocytopenic)$Blood and lymphatic system disorders MDR
PRIMARY_SOC 10005329 MDR
PRIMARY_SOC 10010331 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 20.0 MDR
PT_IN_VERSION 20.1 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
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/2926/inherited-hypoprothrombinemia/resources/1 GARD
RXAUI 3144897 RXNORM
RXAUI 3159423 RXNORM
RXAUI 3174872 RXNORM
RXAUI 3174873 RXNORM
RXAUI 3225230 RXNORM
RXAUI 5039489 RXNORM
RXCUI 1023756 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 14.1 MDR
SMQ_TERM_ADDVERSION 20.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_LMVERSION 14.1 MDR
SMQ_TERM_LMVERSION 20.1 MDR
SMQ_TERM_SCOPE 1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 73975000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D68.2 | MAPPED FOLLOWING WHO GUIDANCE 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~D68.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D68.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ACQUIRED FACTOR II DEFICIENCY CHOOSE D68.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 191298004 | Acquired factor II deficiency | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~D68.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~D68.4 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XE141 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 T021034 MSH
TERMUI T021035 MSH
TERMUI T021036 MSH
TERMUI T021037 MSH
TERMUI T811661 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (1999) MSH
TH OMIM (2013) 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=C0020640

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