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Disorders of Porphyrin Metabolism (CUI C0032708) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0032708

NCI Thesaurus Code: C97096  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A group of genetic or acquired metabolic disorders characterized by defects in the enzymes that are involved in the heme synthesis.

GARD Definition: The porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs. Major types include ALAD deficiency porphyria , acute intermittent porphyria, congenital erythropoietic porphyria , erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. The most common type of porphyria is porphyria cutanea tarda. Some of the symptoms of porphyria include blistering, swelling, and itching when the skin is exposed to sun. Other symptoms may also include pain, numbness or tingling, vomiting, constipation and intellectual disability. There is no known cure for porphyria, but the multiple forms have different courses of treatment.

Most porphyrias are inherited conditions with either an autosomal dominant or autosomal recessive pattern of inheritance. Porphyria can also be caused by environmental factors such as infections or exposures to certain prescription drugs. This type of porphyria is called sporadic or acquired porphyria.

- this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen.

There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go.

Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks.

Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

CSP Definition: group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway; acquired porphyrias, which are due to inhibition of enzymes in the metabolic pathway by a drug, toxin or abnormal metabolite, are more common than those which are inherited.

MSH Definition: A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.

Synonyms & Abbreviations: (see Synonym Details)
Dis porphyrin metabolism
Disorder of porphyrin and haem metabolism
Disorder of porphyrin and heme metabolism
Disorder of porphyrin metabolism (disorder)
disorder of porphyrin metabolism
Disorder, Porphyrin
disorders of porphyrin metabolism
Disorders, Porphyrin
Hematoporphyria
Porphyria (disorder)
Porphyria NOS
Porphyrias [Disease/Finding]
Porphyrias
porphyria
Porphyrin Disorders
porphyrin disorder
Porphyrin metabolism disorder NOS
Porphyrin metabolism disorder
Porphyrinopathy (disorder)
Porphyrinopathy
Unspecified porphyria

External Source Codes: 
NCI Thesaurus Code C97096 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN general or unspecified: prefer specifics MSH
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
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID XUB6y SNOMEDCT_US
CTV3ID XUdCr SNOMEDCT_US
CTV3ID XUUr8 SNOMEDCT_US
DATE_CREATED 06/15/2001 MEDLINEPLUS
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-7403 CSP
DX 20050101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EFFECTIVE_TIME 20020731 SNOMEDCT_US
EFFECTIVE_TIME 20060131 SNOMEDCT_US
FX D000623 MSH
FX D011163 MSH
HAS_GARD_PAGE true GARD
HN 2005 (1963) MSH
ICE Hematoporphyria; Hematoporphyrinuria; Hereditary coproporphyria; Porphyria; Porphyrinuria; Protocoproporphyria; Protoporphyria; Pyrroloporphyria ICD9CM
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. NDFRT
MESH_DUI D011164 NDFRT
MESH_NAME Porphyrias NDFRT
MESH_UI M0017334 NDFRT
MMR 20150602 MSH
MN C18.452.811 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/porphyria.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/porphyria.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Diabetes and Digestive and Kidney Diseases http://www.niddk.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000002464 NDFRT
ORDER_NO 04704 ICD10CM
PM 2005; see PORPHYRIA 1963-2004 MSH
PRIMARY_PATH 10036181$10021607$10027424$10010331$Porphyria$Inborn errors of porphyrin metabolism$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_PATH 10061356$10021607$10027424$10010331$Porphyrin metabolism disorder$Inborn errors of porphyrin metabolism$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders 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 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/10353/porphyria/resources/1 GARD
RXAUI 3222538 RXNORM
RXAUI 3222554 RXNORM
RXAUI 3222555 RXNORM
RXAUI 5932048 RXNORM
RXCUI 1022410 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 29094004 NDFRT
SNOMED_CID 371628009 NDFRT
SNOMED_CID 418470004 NDFRT
SNOMEDID D6-88000 SNOMEDCT_US
SNOMEDID D6-88001 SNOMEDCT_US
SNOMEDID D6-88003 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E80.2 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E80.2 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~E80.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E80.20 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E80.20 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~E80.20 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUB6y SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUdCr SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUUr8 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-88000 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-88001 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-88003 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 T032890 MSH
TERMUI T551501 MSH
TERMUI T842304 MSH
TH GHR (2014) MSH
TH NLM (1963) MSH
TH NLM (2005) 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=C0032708

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