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Hereditary factor II deficiency disease (CUI C0272317) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0272317

NCI Thesaurus Code: C26799  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding.

NICHD Definition: An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood.

Synonyms & Abbreviations: (see Synonym Details)
Constitutional dysprothrombinemia
Dysprothrombinemia
Hereditary factor II deficiency disease (disorder)
Hereditary factor II deficiency disease
Hereditary Factor II Deficiency
Hereditary hypoprothrombinaemia
Hereditary hypoprothrombinemia
Hereditary Prothrombin Deficiency

External Source Codes: 
NCI Thesaurus Code C26799 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID XUBwM 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 10682 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 2 MSH
HM D025861 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
MDA 20121105 MSH
MMR 20131024 MSH
NICHD_Hierarchy_Term Hereditary Factor II Deficiency NCI
RN 0 MSH
SC 3 MSH
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~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~D68.2 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUBwM 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 T801376 MSH
TH GHR (2014) 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=C0272317

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