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Preferred Name

Phénylcétonuries
Synonyms

PCU (PhénylCétonUrie)

Phénylcétonurie classique

Déficit grave en phénylalanine hydroxylase

Phénylcétonurie de type 1

Phénylcétonurie de type II

Maladie de Fölling

Hyperphénylalaninémie liée au déficit en dihydroptéridine réductase

Déficit en phénylalanine hydroxylase

Hyperphénylalaninémie non phénylcétonurique

Phénylcétonurie atypique

Phénylcétonurie de type 2

Déficit en dihydroptéridine réductase

Hyperphénylalaninémie

Phénylcétonurie de type I

Phénylcétonurie
ID

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

PCU (PhénylCétonUrie)

Phénylcétonurie classique

Déficit grave en phénylalanine hydroxylase

Phénylcétonurie de type 1

Phénylcétonurie de type II

Maladie de Fölling

Hyperphénylalaninémie liée au déficit en dihydroptéridine réductase

Déficit en phénylalanine hydroxylase

Hyperphénylalaninémie non phénylcétonurique

Phénylcétonurie atypique

Phénylcétonurie de type 2

Déficit en dihydroptéridine réductase

Hyperphénylalaninémie

Phénylcétonurie de type I

Phénylcétonurie
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

D010661
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