deficiency of uroporphyrinogen III synthase

Preferred Label : deficiency of uroporphyrinogen III synthase;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0536364;

UMLS CUI

C2718078;

Currated CISMeF NLP mapping
- Congenital erythropoietic porphyria [ICD-11 More detail]
- Congenital erythropoietic porphyria [ORDO Disease]
- Congenital erythropoietic porphyria (disorder) [SNOMED CT concept]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category (who)]
- Porphyria, congenital erythropoietic [OMIM Phenotype]
- congenital erythropoietic porphyria [SNOMED Notion]
Related record
- porphyria, erythropoietic [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]