Logical Observation Identifier Names and Codes

Last uploaded: March 1, 2019

Preferred Name	Dihydrolipoamide dehydrogenase deficiency
ID	http://purl.bioontology.org/ontology/LNC/LA12490-1
Answer code	E3
Answer list OID	1.3.6.1.4.1.12009.10.1.3266 1.3.6.1.4.1.12009.10.1.3269 1.3.6.1.4.1.12009.10.1.3274
Answer to	http://purl.bioontology.org/ontology/LNC/57719-7 http://purl.bioontology.org/ontology/LNC/57720-5 http://purl.bioontology.org/ontology/LNC/57793-2 http://purl.bioontology.org/ontology/LNC/57131-5
cui	C0268193
Externally defined	N
notation	LA12490-1
prefLabel	Dihydrolipoamide dehydrogenase deficiency
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/D74.0	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/OMIM/246900	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/246900	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/MESH/C537841	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/OMIM/238331	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/250800	Online Mendelian Inheritance in Man	CUI