genetic brain disorders

Preferred Label : genetic brain disorders;

MedlinePlus synonym : niemann-pick disease; maple syrup urine disease; brain disorders, inborn genetic; inborn genetic brain disorders;

Details

Origin ID

T3117;

UMLS CUI

C1456542;

Automatic exact mappings (from CISMeF team)
- Galactosaemia [MedDRA Preferred Term]
- Galactosemia [MedDRA LLT]
- Galactosemia [ICD-9 code]
- Galactosemia (disorder) [SNOMED CT concept]
- Galactosemias [LOINC component]
- Maple syrup disease [MedDRA Preferred Term]
- Maple syrup urine disease [OMIM phenotypic series]
- Maple syrup urine disease [ACR pathology]
- Maple syrup urine disease [LOINC component]
- Maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [MedDRA LLT]
- Maple syrup urine disease (disorder) [SNOMED CT concept]
- Maple syrup urine disease, type ia [OMIM Phenotype]
- Niemann-Pick Disease [NCIt concept]
- Niemann-Pick disease [DO Concept]
- Niemann-Pick disease [PASCAL descriptor]
- Niemann-Pick disease [ACR pathology]
- Niemann-Pick disease [ACR pathology]
- Niemann-Pick disease [MedDRA Preferred Term]
- Niemann-Pick diseases [MeSH concept]
- Sphingomyelin/cholesterol lipidosis (disorder) [SNOMED CT concept]
- branched chain keto acid dehydrogenase E1 subunit alpha [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit alpha [HGNC gene]
- branched chain keto acid dehydrogenase E1 subunit beta [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit beta [HGNC gene]
- galactosemias [MeSH Descriptor]
- leucinosis [Artificial nutrition thesaurus concept]
- maple syrup urine disease [DO Concept]
- maple syrup urine disease [MeSH Descriptor]
- maple syrup urine disease [MeSH concept]
- niemann-pick diseases [MeSH Descriptor]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
MeSH descriptor(s)
- brain diseases, metabolic, inborn [MeSH Descriptor]
- maple syrup urine disease [MeSH Descriptor]
- niemann-pick diseases [MeSH Descriptor]
See also
- amino acid metabolism disorders [MedlinePlus Topic]
- birth defects [MedlinePlus Topic]
- brain diseases [MedlinePlus Topic]
- carbohydrate metabolism disorders [MedlinePlus Topic]
- cerebellar disorders [MedlinePlus Topic]
- degenerative nerve diseases [MedlinePlus Topic]
- genetic disorders [MedlinePlus Topic]
- genetic testing [MedlinePlus Topic]
- leukodystrophies [MedlinePlus Topic]
- lipid metabolism disorders [MedlinePlus Topic]
- metabolic disorders [MedlinePlus Topic]
- mitochondrial diseases [MedlinePlus Topic]
- phenylketonuria [MedlinePlus Topic]
- tay-sachs disease [MedlinePlus Topic]
- wilson disease [MedlinePlus Topic]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Maple Syrup Urine Disease [NCIt concept]
- Niemann-Pick disease [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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