Disorders of fatty-acid metabolism

Preferred Label : Disorders of fatty-acid metabolism;

ICD-10 exclusion note : peroxisomal disorders (E71.5); Refsum's disease (G60.1); Schilder's disease (G37.0); carnitine deficiency due to inborn error of metabolism (E71.42);

Diag associé à un acte (%) : 69.1;

Source : OMS;

Date de début : 01/01/1997;

Date de mise à jour : 01/01/2016;

Details

Origin ID

E713;

UMLS CUI

C0268634;

Automatic exact mappings (from CISMeF team)
- Abnormal circulating fatty-acid concentration [HPO term]
- Disorder of fatty acid metabolism (disorder) [SNOMED CT concept]
- Fatty Acid Metabolism Disorder [NCIt concept]
- disorders of fatty-acid metabolism [Artificial nutrition thesaurus concept]
DO Cross reference
- D-bifunctional protein deficiency [DO Concept]
- carnitine palmitoyltransferase I deficiency [DO Concept]
Excluded by
- Diffuse sclerosis of central nervous system [ICD-10 Sub-category]
- Other and unspecified adrenocortical insufficiency [ICD-10 Sub-category]
- Other disorders of amino-acid metabolism [ICD-10 category]
- Other sphingolipidosis [ICD-10 Sub-category]
ICD-10 exclusion(s)
- Diffuse sclerosis of central nervous system [ICD-10 Sub-category]
Orphanet concepts
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency [ORDO Disease]
- 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Acyl-CoA dehydrogenase 9 deficiency [ORDO Disease]
- Acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Adrenomyeloneuropathy [ORDO Disease]
- Bifunctional enzyme deficiency [ORDO Disease]
- Carnitine palmitoyl transferase 1A deficiency [ORDO Disease]
- Carnitine palmitoyl transferase II deficiency, myopathic form [ORDO Disease]
- Carnitine palmitoyl transferase II deficiency, neonatal form [ORDO Disease]
- Carnitine palmitoyl transferase II deficiency, severe infantile form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
- Carnitine-acylcarnitine translocase deficiency [ORDO Disease]
- Disorder of carnitine cycle and carnitine transport [ORDO Disease]
- Disorder of fatty acid oxidation and ketogenesis [ORDO Disease]
- Disorder of fatty acid oxidation and ketone body metabolism [ORDO Disease]
- Disorder of ketolysis [ORDO Disease]
- Fatty acyl-CoA reductase 1 deficiency [ORDO Disease]
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Medium chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Metabolic disease due to other fatty acid oxidation disorder [ORDO Disease]
- Multiple acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Multiple acyl-CoA dehydrogenase deficiency, mild type [ORDO Disease]
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type [ORDO Disease]
- Neonatal adrenoleukodystrophy [ORDO Disease]
- Peroxisomal acyl-CoA oxidase deficiency [ORDO Disease]
- Peroxisomal beta-oxidation disorder [ORDO Disease]
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Short chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [ORDO Disease]
- Systemic primary carnitine deficiency [ORDO Disease]
- Transient neonatal multiple acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Very long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- X-linked adrenoleukodystrophy [ORDO Disease]
- X-linked cerebral adrenoleukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of fatty acid metabolism (disorder) [SNOMED CT concept]
- Disorder of fatty acid oxidation and ketone body metabolism [ORDO Disease]
- Fatty Acid Metabolism Disorder [NCIt concept]
- Inborn errors of fatty acid oxidation or ketone body metabolism [ICD-11 Subcategory]
- disorder of fatty acid metabolism, nos [SNOMED Notion]
- fatty acid metabolism disorder [Disease (Nov.)]

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