Mitochondrial trifunctional protein deficiency

Preferred Label : Mitochondrial trifunctional protein deficiency;

ICD-11 definition : Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder of mitochondrial fatty acid oxidation which main manifestations include hypoketotic hypoglycemia in infancy or early childhood, along with hypotonia and often fatal hypertrophic cardiomyopathy, or sudden unexplained death. Later onset forms of the disease have been described, with peripheral neuropathy and episodes of rhabdomyolysis or muscular weakness related to myopathy.;

ICD-11 synonym : Mitochondrial trifunctional enzyme deficiency;

Details

Origin ID

1018083832;

UMLS CUI

C1969443;

Automatic exact mappings (from CISMeF team)
- mitochondrial trifunctional protein deficiency [DO Concept]
- trifunctional protein deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Mitochondrial Trifunctional Protein Deficiency [NCIt concept]
- Mitochondrial trifunctional protein deficiency [ORDO Disease]
- Mitochondrial trifunctional protein deficiency (disorder) [SNOMED CT concept]
- Mitochondrial trifunctional protein deficiency 1 [OMIM Phenotype]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH Supplementary Concept]
See also inter- (CISMeF)
- LCHAD deficiency [MedDRA LLT]
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [OMIM Phenotype]
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]
- Mitochondrial Trifunctional Protein Deficiency [NCIt concept]
- Mitochondrial trifunctional protein deficiency [ORDO Disease]
- 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]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH Supplementary Concept]

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