trifunctional protein deficiency with myopathy and neuropathy

Preferred Label : trifunctional protein deficiency with myopathy and neuropathy;

MeSH note : mutations in HADHA or HADHB;

MeSH synonym : Long-Chain 3-Hydroxyacyl-CoA dehydrogenase deficiency; mitochondrial trifunctional protein deficiency; Long-Chain 3-Hydroxy acyl CoA dehydrogenase deficiency; TFP deficiency; Long-Chain 3-OH Acyl-CoA dehydrogenase deficiency; 3-Hydroxyacyl-CoA dehydrogenase, long chain, deficiency; LCHAD deficiency; trifunctional protein deficiency;

MeSH hyponym : Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency;

Details

Origin ID

C566945;

UMLS CUI

C1969443;

Automatic exact mappings (from CISMeF team)
- Long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency [MedDRA LLT]
- Trifunctional protein deficiency [MedDRA Preferred Term]
- mitochondrial trifunctional protein deficiency [DO Concept]
- trifunctional protein deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- LCHAD deficiency [MedDRA LLT]
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [OMIM Phenotype]
- Mitochondrial Trifunctional Protein Deficiency [NCIt concept]
- Mitochondrial trifunctional protein deficiency [ICD-11 More detail]
- Mitochondrial trifunctional protein deficiency [ORDO Disease]
- Mitochondrial trifunctional protein deficiency (disorder) [SNOMED CT concept]
- Mitochondrial trifunctional protein deficiency 1 [OMIM Phenotype]
DO Cross reference
- mitochondrial trifunctional protein deficiency [DO Concept]
HPO term
- Decreased 3-hydroxyacyl-CoA dehydrogenase level [HPO term]
MeSH term(s) associated for indexing
- 3-Hydroxyacyl CoA dehydrogenases [MeSH Descriptor]
- cardiomyopathies [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
- mitochondrial myopathies [MeSH Descriptor]
- mitochondrial trifunctional protein [MeSH Descriptor]
- nervous system diseases [MeSH Descriptor]
- rhabdomyolysis [MeSH Descriptor]
Record concept(s)
- trifunctional protein deficiency with myopathy and neuropathy [MeSH concept]
- trifunctional protein deficiency, type 1 [MeSH concept]
- trifunctional protein deficiency, type 2 [MeSH concept]
See also inter- (CISMeF)
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Decreased 3-hydroxyacyl-CoA dehydrogenase level [HPO term]
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [OMIM Phenotype]
- Mitochondrial Trifunctional Protein Deficiency [NCIt concept]
- Mitochondrial trifunctional protein deficiency [ORDO Disease]
- Mitochondrial trifunctional protein deficiency [ICD-11 More detail]
- Mitochondrial trifunctional protein deficiency (disorder) [SNOMED CT concept]
- Mitochondrial trifunctional protein deficiency 1 [OMIM Phenotype]
- Trifunctional protein deficiency [MedDRA Preferred Term]
- mitochondrial trifunctional protein deficiency [DO Concept]

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