Ziekte, esdoornstroop- - CISMeF

CISMeF

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Ziekte, esdoornstroop-Descripteur MeSH

Voorkeurslabel : Ziekte, esdoornstroop-;

Details

Oorsprong id

D008375;

UMLS CUI

C0024776;

Automatic exact mappings (from CISMeF team)
- Klassieke maple syrup urine disease [ORDO Disease]
- Overige gespecificeerde stofwisselingsstoornissen van aminozuren met vertakte keten [ICD-10 Sub-category (who)]
- branched chain keto acid dehydrogenase E1 subunit alpha [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit beta [ORDO Gene]
Manual NTBT mappings (CISMeF)
- Stoornis van vertakte keten-aminozuurmetabolisme [ORDO Disease]
ORDO relation(s)
- Maple syrup urine disease [ORDO Disease]
See also
- Urine [MeSH Descriptor]
UMLS correspondences (same concept)
- Maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [LOINC component]
- Maple-syrup-urine disease [ICD-10 Sub-category (who)]
- esdoornstroopziekte [MedDRA Preferred Term]
- maple syrup urine disease [MedDRA LLT]
Validated automatic mappings to BTNT
- Intermediaire maple syrup urine disease [ORDO Disease]
- Intermitterende maple syrup urine disease [ORDO Disease]
- Klassieke maple syrup urine disease [ORDO Disease]
- Thiamineresponsieve maple syrup urine disease [ORDO Disease]

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13/05/2025

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