Paroxysmal Nocturnal Hemoglobinuria

Preferred Label : Paroxysmal Nocturnal Hemoglobinuria;

NCIt synonyms : Paroxysmal Hemoglobinuria; PNH;

NCIt definition : A rare acquired hematologic disorder characterized by hemolytic anemia, dark-colored urine due to the release of hemoglobin in the blood, and thrombosis. The episodes of hemolysis tend to occur at night. It is caused by a somatic mutation in the glycosylphosphatidylinositol biosynthesis gene.;

Alternative definition : NCI-GLOSS: A rare disorder in which red blood cells are easily destroyed by certain immune system proteins. Symptoms include blood clots, and red or brownish urine in the morning. Aplastic anemia (decreased production of blood cells) may lead to PNH, and people with PNH are at increased risk of acute myelogenous leukemia.;

Codes from synonyms : CDR0000438735; CDR0000438734;

Details

Origin ID

C61233;

UMLS CUI

C0024790;

Currated CISMeF NLP mapping
- Nocturnal paroxystic anemia [PASCAL descriptor]
- Paroxysmal nocturnal haemoglobinuria [ICD-11 Subcategory]
- Paroxysmal nocturnal haemoglobinuria [MedDRA Preferred Term]
- Paroxysmal nocturnal haemoglobinuria [Marchiafava-Micheli] [ICD-10 Sub-category (who)]
- Paroxysmal nocturnal hemoglobinuria [OMIM phenotypic series]
- Paroxysmal nocturnal hemoglobinuria [HPO term]
- Paroxysmal nocturnal hemoglobinuria [ORDO Disease]
- Paroxysmal nocturnal hemoglobinuria [MedDRA LLT]
- Paroxysmal nocturnal hemoglobinuria (disorder) [SNOMED CT concept]
- Paroxysmal nocturnal hemoglobinuria 1 [OMIM Phenotype]
- hemoglobinuria, paroxysmal [MeSH concept]
- nocturnal paroxysmal hemoglobinuria [Blood Transfusion thesaurus concept]
- paroxysmal nocturnal hemoglobinuria [DO Concept]
- paroxysmal nocturnal hemoglobinuria [Disease (Nov.)]
- paroxysmal nocturnal hemoglobinuria [MeSH concept]
- paroxysmal nocturnal hemoglobinuria [SNOMED Notion]
DO Cross reference
- paroxysmal nocturnal hemoglobinuria [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- paroxysmal hemoglobinuria [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Paroxysmal nocturnal haemoglobinuria [MedDRA Preferred Term]
- Paroxysmal nocturnal hemoglobinuria [ORDO Disease]
- Paroxysmal nocturnal hemoglobinuria [MedDRA LLT]
- Paroxysmal nocturnal hemoglobinuria [HPO term]
- Paroxysmal nocturnal hemoglobinuria (disorder) [SNOMED CT concept]
- Paroxysmal nocturnal hemoglobinuria [Marchiafava-Micheli] [ICD-10 Sub-category]
- paroxysmal nocturnal hemoglobinuria [Disease (Nov.)]
- paroxysmal nocturnal hemoglobinuria [MeSH concept]
- paroxysmal nocturnal hemoglobinuria [SNOMED Notion]
Validated automatic mappings to NTBT
- hemoglobinuria, paroxysmal [MeSH Descriptor]
associated_with_malfunction_of_gene_product
- Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A [NCIt concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]

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