| Descriptor English: | Porphyria, Erythropoietic | ||||||
| Descriptor Spanish: |
Porfiria Eritropoyética
| ||||||
| Descriptor Portuguese: | Porfiria Eritropoética | ||||||
| Descriptor French: | Porphyrie érythropoïétique | ||||||
| Entry term(s): |
Congenital Erythropoietic Porphyria Congenital Erythropoietic Porphyrias Deficiency of Uroporphyrinogen III Synthase Erythropoietic Porphyria Erythropoietic Porphyria, Congenital Erythropoietic Porphyrias Erythropoietic Porphyrias, Congenital Gunther Disease Gunther's Disease Gunthers Disease Porphyria, Congenital Erythropoietic Porphyria, Erythropoietic, Congenital Porphyrias, Congenital Erythropoietic Porphyrias, Erythropoietic UROS Deficiency Uroporphyrinogen III Synthase, Deficiency of |
||||||
| Tree number(s): |
C16.320.850.738 C17.800.827.738 C18.452.811.250 |
||||||
| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D017092 | ||||||
| Scope note: | An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS. |
||||||
| Annotation: | do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC |
||||||
| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
||||||
| Previous Indexing: |
Porphyria (1966-1992) |
||||||
| Public MeSH Note: | 1993 |
||||||
| History Note: | 1993 |
||||||
| Related: |
Uroporphyrinogen III Synthetase
MeSH | ||||||
| DeCS ID: | 30606 | ||||||
| Unique ID: | D017092 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1993/01/01 | ||||||
| Date of Entry: | 1992/05/22 | ||||||
| Revision Date: | 2015/06/05 |
|
|
Porphyria, Erythropoietic
- Preferred
Deficiency of Uroporphyrinogen III Synthase
- Related but not broader or narrower
| Concept UI |
M0025969 |
| Scope note | An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS. |
| Preferred term | Porphyria, Erythropoietic |
| Entry term(s) |
Congenital Erythropoietic Porphyria Congenital Erythropoietic Porphyrias Erythropoietic Porphyria Erythropoietic Porphyria, Congenital Erythropoietic Porphyrias Erythropoietic Porphyrias, Congenital Gunther Disease Gunther's Disease Gunthers Disease Porphyria, Congenital Erythropoietic Porphyria, Erythropoietic, Congenital Porphyrias, Congenital Erythropoietic Porphyrias, Erythropoietic |
| Concept UI |
M0536364 |
| Preferred term | Deficiency of Uroporphyrinogen III Synthase |
| Entry term(s) |
UROS Deficiency Uroporphyrinogen III Synthase, Deficiency of |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
