leiomyomatosis, esophageal and vulval, with nephropathy

Preferred Label : leiomyomatosis, esophageal and vulval, with nephropathy;

MeSH synonym : DL-ATS; diffuse leiomyomatosis in alport syndrome; alport syndrome with diffuse leiomyomatosis; ATS-DL; alport syndrome and diffuse leiomyomatosis; diffuse leiomyomatosis with alport syndrome;

Details

Origin ID

C537113;

UMLS CUI

C1839884;

Automatic exact mappings (from CISMeF team)
- Dihydrolipoamide s-acetyltransferase [OMIM gene]
CISMeF manual mappings
- X-linked Alport syndrome-diffuse leiomyomatosis [ORDO Disease]
Currated CISMeF NLP mapping
- Alport syndrome, X-linked diffuse leiomyomatosis [ICD-11 More detail]
- Leiomyomatosis, diffuse, with alport syndrome [OMIM Phenotype]
- X-linked diffuse leiomyomatosis with Alport syndrome (disorder) [SNOMED CT concept]
- diffuse leiomyomatosis with Alport syndrome [Disease (Nov.)]
MeSH term(s) associated for indexing
- leiomyomatosis [MeSH Descriptor]
- nephritis, hereditary [MeSH Descriptor]
Record concept(s)
- Leiomyomatosis, esophageal and vulval, with nephropathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leiomyomatosis, diffuse, with alport syndrome [OMIM Phenotype]
- X-linked Alport syndrome-diffuse leiomyomatosis [ORDO Disease]
- diffuse leiomyomatosis with Alport syndrome [Disease (Nov.)]

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