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Preferred Name

Disorders of pyruvate metabolism and gluconeogenesis
Synonyms

Deficiency of pyruvate carboxylase
ID

http://purl.bioontology.org/ontology/ICD10CM/E74.4
altLabel

Deficiency of pyruvate carboxylase

Deficiency of phosphoenolpyruvate carboxykinase

Deficiency of pyruvate dehydrogenase
cui

C0034341

C0348946

C0268194

C0034345
EXCLUDES1

disorders of pyruvate metabolism and gluconeogenesis with anemia (D55.-); Leigh's syndrome (G31.82)
notation

E74.4
Order number

04821
prefLabel

Disorders of pyruvate metabolism and gluconeogenesis
tui

T047
subClassOf

http://purl.bioontology.org/ontology/ICD10CM/E74
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http://purl.bioontology.org/ontology/NDFRT/N0000003221 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/X40Tu RCD CUI
http://purl.bioontology.org/ontology/OMIM/312170 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/87694001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/266150 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10077944 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D015324 MESH CUI
http://purl.bioontology.org/ontology/LNC/LA12519-7 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10077944 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/608786 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/87694001 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X40Tv RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10077944 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D015324 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-58110 SNMI CUI
http://purl.bioontology.org/ontology/ICD10/E74.4 ICD10 CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190760009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/190760009 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C536654 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-58150 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/5335002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/5335002 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/46683007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10084109 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003222 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/X40Tw RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/46683007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D015325 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10084109 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10084109 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124593001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-58100 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D015325 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/124593001 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10/E74.4 ICD10 LOOM
http://purl.bioontology.org/ontology/RCTV2/C315.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190760009 SNOMEDCT LOOM