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Preferred Name

Phénylcétonuries
Synonyms

PCU (PhénylCétonUrie)

Phénylcétonurie de type 1

Phénylcétonurie

Phénylcétonurie de type 2

Hyperphénylalaninémie non phénylcétonurique

Phénylcétonurie atypique

Phénylcétonurie de type I

Déficit en dihydroptéridine réductase

Phénylcétonurie classique

Hyperphénylalaninémie

Maladie de Fölling

Phénylcétonurie de type II

Déficit en phénylalanine hydroxylase

Hyperphénylalaninémie liée au déficit en dihydroptéridine réductase

Déficit grave en phénylalanine hydroxylase
ID

http://purl.bioontology.org/ontology/MSHFRE/D010661
altLabel

PCU (PhénylCétonUrie)

Phénylcétonurie de type 1

Phénylcétonurie

Phénylcétonurie de type 2

Hyperphénylalaninémie non phénylcétonurique

Phénylcétonurie atypique

Phénylcétonurie de type I

Déficit en dihydroptéridine réductase

Phénylcétonurie classique

Hyperphénylalaninémie

Maladie de Fölling

Phénylcétonurie de type II

Déficit en phénylalanine hydroxylase

Hyperphénylalaninémie liée au déficit en dihydroptéridine réductase

Déficit grave en phénylalanine hydroxylase
cui

C0751436

C0751435

C0031485

C0268465

C0751434
Inverse of RO

http://purl.bioontology.org/ontology/MSHFRE/D010651

http://purl.bioontology.org/ontology/MSHFRE/D014556

http://purl.bioontology.org/ontology/MSHFRE/D004093
notation

D010661
prefLabel

Phénylcétonuries
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MSHFRE/D020739

http://purl.bioontology.org/ontology/MSHFRE/D000592
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/68724006 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/1849-1177 CRISP CUI
http://purl.bioontology.org/ontology/CSP/1849-1177 CRISP CUI
http://purl.bioontology.org/ontology/SCTSPA/58256000 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10069116 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10069116 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10069116 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/68724006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D010661 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-A1160 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10084106 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LA21167-4 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10084114 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10084106 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/68528007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10084114 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/68528007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/MTHU010142 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10084106 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D6-A1110 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10084114 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D010661 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10034872 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10035118 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190687004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10060404 MDRFRE CUI
http://purl.bioontology.org/ontology/ICPC2P/T99023 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRGER/10034873 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10035118 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/270.1 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10034873 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10060404 MDRGER CUI
http://purl.bioontology.org/ontology/CST/PHENYLKETONURIA COSTART CUI
http://purl.bioontology.org/ontology/LNC/LA21169-0 LOINC CUI
http://purl.bioontology.org/ontology/MDRFRE/10034872 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0031485 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MEDDRA/10035118 MEDDRA CUI
http://purl.bioontology.org/ontology/WHOFRE/1119 WHOFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10034873 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10034871 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10060404 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1849-1234 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10034871 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10034871 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10034872 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D6-A1120 SNMI CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002389 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/C301. RCD CUI
http://purl.bioontology.org/ontology/WHO/1119 WHO-ART CUI
http://purl.bioontology.org/ontology/MESH/D010661 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/190687004 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/261630 OMIM CUI
http://purl.bioontology.org/ontology/RCD/X40Rf RCD CUI
http://purl.bioontology.org/ontology/SNMI/D6-A1150 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/58256000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/612676 OMIM CUI
http://purl.bioontology.org/ontology/MESH/D010661 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10034875 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU010141 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/7573000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.0 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10/E70.0 ICD10 CUI
http://purl.bioontology.org/ontology/RCD/Xa0lA RCD CUI
http://purl.bioontology.org/ontology/OMIM/261600 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/7573000 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10034875 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LA12520-5 LOINC CUI
http://purl.bioontology.org/ontology/CSP/1849-1234 CRISP CUI
http://purl.bioontology.org/ontology/RCD/X40Rb RCD CUI
http://purl.bioontology.org/ontology/SNMI/D6-A1120 SNMI CUI
http://purl.bioontology.org/ontology/RCD/C301. RCD CUI
http://purl.bioontology.org/ontology/MESH/D010661 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10034875 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/612349 OMIM CUI