Jump to:
loading...| Preferred Name |
Porphyria Cutanea Tarda |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27725 |
| code |
C27725 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| DEFINITION |
A cutaneous form of the genetic photosensitive disease, porphyria, that is characterized by onset in adult life and the presence of scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia. Uroporphyrins are found in the urine due to a deficiency of uroporphyrinogen decarboxylase, an enzyme required for the synthesis of heme. |
| FULL_SYN |
Porphyria Cutanea Tarda |
| label |
Porphyria Cutanea Tarda |
| Legacy Concept Name |
Porphyria_Cutanea_Tarda |
| Preferred_Name |
Porphyria Cutanea Tarda |
| prefixIRI |
Thesaurus:C27725 |
| prefLabel |
Porphyria Cutanea Tarda |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0162566 |
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97096 |
Create New Mapping