Inborn errors of metabolism

ICD-11 code : L2-5C5;

Preferred Label : Inborn errors of metabolism;

ICD-11 definition : Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).;

ICD-11 synonym : inherited metabolic diseases; congenital metabolic diseases;

ICD-11 "other" category code : 5C5Y;

ICD-11 "unspecified" category code : 5C5Z;

Details

Origin ID

733825440;

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 [MedDRA High Level Group Term]
- Rare inborn errors of metabolism [ORDO Disease]
- inborn error of metabolism [Disease (Nov.)]
- inborn error of metabolism, nos [SNOMED Notion]
- inherited metabolic disorder [DO Concept]
- metabolism, inborn errors [MeSH concept]
- metabolism, inborn errors [MeSH Descriptor]
See also inter- (CISMeF)
- inherited metabolic disease [Disease (Nov.)]
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 error of metabolism [Disease (Nov.)]
- inborn error of metabolism, nos [SNOMED Notion]
- inherited metabolic disease [Disease (Nov.)]
- inherited metabolic disorder [DO Concept]
- metabolism, inborn errors [MeSH Descriptor]
- metabolism, inborn errors [MeSH concept]
Validated automatic mappings to BTNT
- Hereditary metabolic disease (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Metabolic Disorder [NCIt concept]
- Metabolic disease [EDAM topic]
- Metabolic disease (disorder) [SNOMED CT concept]
- Metabolic diseases [PASCAL descriptor]
- disease of metabolism [DO Concept]
- metabolic disease [Radlex concept]
- metabolic disease, nos [SNOMED Notion]
- metabolic diseases [MeSH Descriptor]
- metabolic diseases [MeSH concept]
- metabolic disorders [MedlinePlus Topic]

Keyword's position in hierarchy(ies) :

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