Mitochondrial Trifunctional Protein Deficiency

Preferred Label : Mitochondrial Trifunctional Protein Deficiency;

NCIt definition : A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death.;

Détails

Origin ID

C98991;

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
- LCHAD deficiency [MedDRA LLT]
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [OMIM Phenotype]
- 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 with myopathy and neuropathy [MeSH Supplementary Concept]
DO Cross reference
- mitochondrial trifunctional protein deficiency [DO Concept]
See also inter- (CISMeF)
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ICD-11 More detail]
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 [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]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HADHA Gene [NCIt concept]
- HADHB Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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