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Preferred Name

Disorders of ornithine metabolism
Synonyms

Ornithine transcarbamylase deficiency
ID

http://purl.bioontology.org/ontology/ICD10CM/E72.4
altLabel

Ornithine transcarbamylase deficiency

Hyperammonemia-Hyperornithinemia-Homocitrullinemia syndrome

Ornithinemia (types I, II)
cui

C2874262

C0268542

C0342690

C0268540
EXCLUDES1

hereditary choroidal dystrophy (H31.2-)
notation

E72.4
Order number

04784
prefLabel

Disorders of ornithine metabolism
tui

T047
subClassOf

http://purl.bioontology.org/ontology/ICD10CM/E72
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http://purl.bioontology.org/ontology/MEDDRA/10052513 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10084224 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10071107 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10071107 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X40SL RCD CUI
http://purl.bioontology.org/ontology/MESH/D020163 MESH CUI
http://purl.bioontology.org/ontology/OMIM/311250 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10052450 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10071107 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10052513 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004014 NDFRT CUI
http://purl.bioontology.org/ontology/LNC/LA12518-9 LOINC CUI
http://purl.bioontology.org/ontology/OMIM/300461 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10052513 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10052450 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D6-A5220 SNMI CUI
http://purl.bioontology.org/ontology/CSP/1849-9662 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10052450 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/80908008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/80908008 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D020163 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/237928008 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X40SI RCD CUI
http://purl.bioontology.org/ontology/ICD10/E72.4 ICD10 CUI
http://purl.bioontology.org/ontology/SNOMEDCT/237928008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/LNC/LA12497-6 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10084222 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10084223 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10084222 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/238970 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10084224 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C538380 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10084225 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10084220 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/30287008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10084225 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10084224 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10084223 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10084222 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10084220 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-A5120 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/30287008 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10084220 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10084225 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10084223 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/603861 OMIM CUI
http://purl.bioontology.org/ontology/RCD/X40SJ RCD CUI
http://purl.bioontology.org/ontology/ICD10/E72.4 ICD10 LOOM