Mercaptolactate-Cysteine disulfiduria

Preferred Label : Mercaptolactate-Cysteine disulfiduria;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0563385;

UMLS CUI

C0796055;

Currated CISMeF NLP mapping
- Beta-mercaptolactate cysteine disulfiduria [ORDO Disease]
- Beta-mercaptolactate cysteine disulfiduria (disorder) [SNOMED CT concept]
- Deficiency of 3-mercaptopyruvate sulfurtransferase (disorder) [SNOMED CT concept]
- Mercaptolactate-cysteine disulfiduria [OMIM Phenotype]
Related record
- Mercaptolactate-Cysteine disulfiduria [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-mercaptolactate cysteine disulfiduria [ORDO Disease]
- Beta-mercaptolactate cysteine disulfiduria (disorder) [SNOMED CT concept]
- Mercaptolactate-cysteine disulfiduria [OMIM Phenotype]