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Paroxysmal nocturnal hemoglobinuria (CUI C0024790) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0024790

NCI Thesaurus Code: C61233  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

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.

GARD Definition: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. It is caused by acquired, rather than inherited, mutations in the PIGA gene; the condition is not passed down to children of affected individuals. Sometimes, people who have been treated for aplastic anemia may develop PNH. The treatment of PNH is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of PNH with aplastic anemia or those whose develop leukemia. - this information is from GARD/ORDR/NCATS.

NCI-GLOSS Definition: 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.

CSP Definition: disorder characterized by intravascular hemolysis and hemoglobinuria; some cases occur on exposure to cold and are due to the presence of an autohemolysin in the serum; other cases are more marked during or immediately after sleep and are considered to be due to an acquired intracorpuscular defect.

Synonyms & Abbreviations: (see Synonym Details)
Hemoglobinuria, Nocturnal Paroxysmal
Hemoglobinuria, Paroxysmal Nocturnal
HEMOGLOBINURIA, PAROXYSMAL, NOCTURNAL
Marchiafava Micheli disease
Marchiafava Micheli Syndrome
Marchiafava-Micheli disease
MARCHIAFAVA-MICHELI SYNDROME
Nocturnal Paroxysmal Hemoglobinuria
Paroxysmal Hemoglobinuria, Nocturnal
Paroxysmal Hemoglobinuria
Paroxysmal nocturnal haemoglobinuria [Marchiafava-Micheli]
Paroxysmal nocturnal haemoglobinuria
Paroxysmal nocturnal hemoglobinuria (disorder)
Paroxysmal nocturnal hemoglobinuria (PNH)
Paroxysmal nocturnal hemoglobinuria [Marchiafava-Micheli]
paroxysmal nocturnal hemoglobinuria
PNH - Paroxysmal nocturnal haemoglobinuria
PNH - Paroxysmal nocturnal hemoglobinuria
PNH
Syndrome, Marchiafava-Micheli

External Source Codes: 
NCI Thesaurus Code C61233 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID D1121 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_FIRST_PUBLISHED 2006-03-07 PDQ
DATE_LAST_MODIFIED 2010-02-08 PDQ
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1418-5897 CSP
DISEASE_IDENTIFIER_ID 5119 GARD
DISEASE_IDENTIFIER_ID 5120 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXCLUDES1 hemoglobinuria NOS (R82.3) ICD10CM
HAS_GARD_PAGE true GARD
IAN DEFAULT ICD10
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-04-07T00:00:00 GARD
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NCI_THESAURUS_CODE C61233 PDQ
ORDER_NO 03409 ICD10CM
ORIG_STY Secondary related condition PDQ
PRIMARY_PATH 10034042$10000196$10046590$10038359$Paroxysmal nocturnal haemoglobinuria$Urinary abnormalities$Urinary tract signs and symptoms$Renal and urinary disorders MDR
PRIMARY_SOC 10038359 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/7337/paroxysmal-nocturnal-hemoglobinuria/resources/1 GARD
REF orcid.org/0000-0001-5208-3432 HPO
SMQ_TERM_ADDVERSION 8.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 8.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D59.5 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~D59.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D59.5 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~D59.5 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~D1121 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 T019495 MSH
TERMUI T019496 MSH
TERMUI T666933 MSH
TH GHR (2014) MSH
TH NLM (1992) MSH
TH NLM (2007) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) 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=C0024790

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