sarcosinemia - CISMeF

Preferred Label : sarcosinemia;

MeSH synonym : hypersarcosinemia; sarcosin dehydrogenase complex, deficiency of; SARDH deficiency; sarcosine dehydrogenase complex, deficiency of; SARD deficiency;

Details

Origin ID

C537236;

UMLS CUI

C0268563;

Automatic exact mappings (from CISMeF team)
- Disorders of glycine metabolism [ICD-10 Sub-category]
- Disorders of glycine metabolism [ICD-10 Sub-category (who)]
- Hypersarcosinemia [PASCAL descriptor]
Currated CISMeF NLP mapping
- Hypersarcosinemia [HPO term]
- Sarcosinaemia [ICD-11 Sub-sub category]
- Sarcosinaemia [MedDRA Preferred Term]
- Sarcosine dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Sarcosinemia [OMIM Phenotype]
- Sarcosinemia [ORDO Disease]
- Sarcosinemia [MedDRA LLT]
- sarcosine dehydrogenase deficiency [SNOMED Notion]
- sarcosinemia [Disease (Nov.)]
DO Cross reference
- sarcosinemia [DO Concept]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
- sarcosine dehydrogenase [MeSH Descriptor]
ORDO relation(s)
- Sarcosinemia [ORDO Disease]
Record concept(s)
- Sarcosinemia [MeSH concept]
See also (suggested by CISMeF)
- SARDH protein, human [MeSH Supplementary Concept]
- sarcosine [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypersarcosinemia [HPO term]
- Sarcosinaemia [MedDRA Preferred Term]
- Sarcosinaemia [ICD-11 Sub-sub category]
- Sarcosine dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Sarcosinemia [ORDO Disease]
- Sarcosinemia [MedDRA LLT]
- Sarcosinemia [OMIM Phenotype]
- sarcosine dehydrogenase deficiency [SNOMED Notion]
- sarcosinemia [Disease (Nov.)]
- sarcosinemia [DO Concept]

Keyword's position in hierarchy(ies) :

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