Polycythemia vera

Preferred Label : Polycythemia vera;

Symbol : PV;

CISMeF acronym : PRV; PV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polycythemia rubra vera; PRV;

Description : Polycythemia vera, the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g.,;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the janus kinase 2 gene (JAK2, 147796);

Laboratory abnormalities : Increased PRV-1 (162860) mRNA; Normal or decreased serum erythropoietin (EPO, 133170); Erythroid colony-forming units show spontaneous growth in the absence of EPO; Normal arterial oxygen saturation;

Prefixed ID : #263300;

Details

Origin ID

263300;

UMLS CUI

C0032463;

Automatic exact mappings (from CISMeF team)
- Polycythaemia vera [ICD-11 Extension code]
- Polycythemia vera [ICD-9 code]
- Polycythemia vera [ACR pathology]
- Specimen from vagina (specimen) [SNOMED CT concept]
- Vaginal Route [ICNP localization]
- administration, intravaginal [MeSH Descriptor]
- paraventricular nucleus of thalamus [UBERON concept]
- pectoral vein [UBERON concept]
- predictive value of tests [MeSH concept]
- predictive value of tests [MeSH Descriptor]
Currated CISMeF NLP mapping
- Polycythaemia rubra vera [MedDRA LLT]
- Polycythaemia vera [ICD-10 category (who)]
- Polycythaemia vera [MedDRA Preferred Term]
- Polycythemia Vera [NCIt concept]
- Polycythemia rubra vera [MedDRA LLT]
- Polycythemia vera [PASCAL descriptor]
- Polycythemia vera [ICD-10 category]
- Polycythemia vera [ICD-9 code]
- Polycythemia vera [ICD-O code]
- Polycythemia vera [ORDO Disease]
- Polycythemia vera [MedDRA LLT]
- Polycythemia vera (disorder) [SNOMED CT concept]
- Polycythemia vera (morphologic abnormality) [SNOMED CT concept]
- polycythemia vera [DO Concept]
- polycythemia vera [Disease (Nov.)]
- polycythemia vera [MeSH Descriptor]
- polycythemia vera [MeSH concept]
- polycythemia vera [Radlex concept]
DO Cross reference
- polycythemia vera [DO Concept]
Genes related to phenotype
- Janus kinase 2 [OMIM gene]
HPO term(s)
- Abnormal thrombosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Budd-Chiari syndrome [HPO term]
- Cerebral hemorrhage [HPO term]
- Cerebral ischemia [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Increased hematocrit [HPO term]
- Increased hemoglobin [HPO term]
- Increased megakaryocyte count [HPO term]
- Increased red blood cell mass [HPO term]
- Isolated cases [HPO term]
- Leukocytosis [HPO term]
- Somatic mutation [HPO term]
- Splenomegaly [HPO term]
- Sporadic [HPO term]
- Thrombocytopenia [HPO term]
- Thrombocytosis [HPO term]
- Thromboembolism [HPO term]
ORDO concept(s)
- Polycythemia vera [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Polycythaemia rubra vera [MedDRA LLT]
- Polycythaemia vera [ICD-10 category (who)]
- Polycythaemia vera [MedDRA Preferred Term]
- Polycythaemia vera [ICD-11 Subcategory]
- Polycythemia Vera [NCIt concept]
- Polycythemia rubra vera [MedDRA LLT]
- Polycythemia vera [MedDRA LLT]
- Polycythemia vera [ORDO Disease]
- Polycythemia vera [ICD-9 code]
- Polycythemia vera [ICD-O code]
- Polycythemia vera [ICD-10 category]
- Polycythemia vera [PASCAL descriptor]
- Polycythemia vera (disorder) [SNOMED CT concept]
- Polycythemia vera (morphologic abnormality) [SNOMED CT concept]
- Primary polycythaemia [MedDRA LLT]
- Primary polycythemia [MedDRA LLT]
- Vaquez's disease [MedDRA LLT]
- polycythemia vera [MeSH Descriptor]
- polycythemia vera [MeSH concept]
- polycythemia vera [Radlex concept]
- polycythemia vera [DO Concept]
- polycythemia vera [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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