Congenital Metabolic Disorder

Preferred Label : Congenital Metabolic Disorder;

NCIt synonyms : Inborn Errors of Metabolism; Congenital Metabolism Disorder;

NCIt related terms : Inborn Error of Metabolism;

NCIt definition : A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.;

Details

Origin ID

C34816;

UMLS CUI

C0025521;

Automatic exact mappings (from CISMeF team)
- inborn error metabolism [Artificial nutrition thesaurus concept]
DO Cross reference
- inherited metabolic disorder [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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]
- 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 NTBT
- metabolic disorder [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Newborn Screening Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients