metabolism, inborn errors

Preferred Label : metabolism, inborn errors;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0013496;

UMLS CUI

C0025521;

Automatic exact mappings (from CISMeF team)
- inborn error metabolism [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Congenital Metabolic Disorder [NCIt concept]
- Inborn error of metabolism [MedDRA Preferred Term]
- Inborn error of metabolism (disorder) [SNOMED CT concept]
- Inborn error of metabolism NOS [MedDRA LLT]
- Inborn errors of metabolism [Bloc CIM-11]
- Inborn errors of metabolism [MedDRA High Level Group Term]
- Metabolic disease [EDAM topic]
- Rare inborn errors of metabolism [ORDO Disease]
- inborn error of metabolism [Disease (Nov.)]
- inborn error of metabolism, nos [SNOMED Notion]
- inherited metabolic disease [Disease (Nov.)]
- inherited metabolic disorder [DO Concept]
- metabolic disease, nos [SNOMED Notion]
- metabolic disorders [MedlinePlus Topic]
Related record
- metabolism, inborn errors [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Metabolic Disorder [NCIt concept]
- Inborn error of metabolism [MedDRA Preferred Term]
- Inborn error of metabolism (disorder) [SNOMED CT concept]
- Inborn error of metabolism NOS [MedDRA LLT]
- Inborn errors of metabolism [MedDRA High Level Group Term]
- Inborn errors of metabolism [Bloc CIM-11]
- inborn error of metabolism [Disease (Nov.)]
- inborn error of metabolism, nos [SNOMED Notion]
- inherited metabolic disease [Disease (Nov.)]
- inherited metabolic disorder [DO Concept]
Validated automatic mappings to NTBT
- Metabolic Disorder [NCIt concept]
- metabolic disorder [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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