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medium chain acyl-CoA dehydrogenase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008721

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. [ Orphanet:42 ]

Term info

database cross reference
  • ICD9:277.85 (MONDO:relatedTo)
  • NCIT:C84538 (MONDO:equivalentTo)
  • MESH:C536038 (Orphanet:42/e)
  • OMIM:201450 (Orphanet:42/e)
  • SCTID:128596003 (MONDO:equivalentTo)
  • ICD10CM:E71.311 (MONDO:equivalentTo)
  • UMLS:C0220710 (Orphanet:42/e)
  • DOID:0080153 (MONDO:equivalentTo)
  • GARD:0000540 (MONDO:equivalentTo)
  • Orphanet:42 (OMIM:201450)
Subsets

ordo_disease, clingen

abbreviation
ACADMD [ OMIM:201450 MONDO:Lexical ]

abbreviation
MCADD [ Orphanet:42 ]

abbreviation
MCAD [ NCIT:C84538 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_42, http://purl.obolibrary.org/obo/DOID_0080153, http://linkedlifedata.com/resource/umls/id/C0220710, http://purl.obolibrary.org/obo/NCIT_C84538, http://identifiers.org/snomedct/128596003, http://identifiers.org/mesh/C536038, http://purl.bioontology.org/ontology/ICD10CM/E71.311, https://omim.org/entry/201450

has exact synonym

MCAD deficiency, medium chain acyl-coenzyme A dehydrogenase deficiency, MCADD, ACADM deficiency, acyl-CoA dehydrogenase, medium-chain deficiency, medium chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, MCAD, medium-chain acyl-Coenzyme A dehydrogenase deficiency, Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency, Acyl-CoA dehydrogenase, medium chain, deficiency of

has related synonym

acyl-CoA dehydrogenase medium chain deficiency of, ACADMD, Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency, medium chain acyl CoA dehydrogenase deficiency, acyl-CoA dehydrogenase, medium-chain, deficiency OF, Mcadh deficiency

id

MONDO:0008721

Term relations