Preferred Name

Syndrome de DiGeorge
Synonyms

Cardiac anomaly, Abnormal face, Thymus hypoplasia, Cleft palate, Hypocalcaemia, 22 chromosome

SVCF

Syndrome vélocardiofacial

Microdélétion 22q11.2

Syndrome de délétion du chromosome 22q11

CATCH 22

SDG (Syndrome de DiGeorge)

Syndrome vélo-cardio-facial

ID

http://purl.bioontology.org/ontology/MSHFRE/D004062

altLabel

Cardiac anomaly, Abnormal face, Thymus hypoplasia, Cleft palate, Hypocalcaemia, 22 chromosome

SVCF

Syndrome vélocardiofacial

Microdélétion 22q11.2

Syndrome de délétion du chromosome 22q11

CATCH 22

SDG (Syndrome de DiGeorge)

Syndrome vélo-cardio-facial

cui

C0220704

C0012236

Inverse of RO

http://purl.bioontology.org/ontology/MSHFRE/D062507

notation

D004062

prefLabel

D004062

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MSHFRE/D058165

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http://purl.bioontology.org/ontology/MEDDRA/10066430 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/758.32 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRGER/10066430 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/602054 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10066430 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X00mm RCD CUI
http://purl.bioontology.org/ontology/MESH/D004062 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/Q93.81 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/5004-0080 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/192430 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D4-00805 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-01532 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/767263007 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10043664 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000971 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10043664 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10084363 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10012979 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/0427-9991 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/602054 OMIM CUI
http://purl.bioontology.org/ontology/ICD9CM/279.11 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10012979 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10084363 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LA26660-3 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D004062 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10043664 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10/D82.1 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10084363 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10012979 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/767263007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/C3911 RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/D82.1 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/188400 OMIM CUI