Preferred Name

DiGeorge's syndrome
Synonyms

thymic hypoplasia

thymic aplasia

pharyngeal pouch syndrome

Definitions

congenital syndrome with the absence of the thymus and parathyroids causing impairment of cellular immunity; immunoglobulin levels are normal.

ID

http://purl.bioontology.org/ontology/CSP/0427-9991

altLabel

thymic hypoplasia

thymic aplasia

pharyngeal pouch syndrome

cui

C0685891

C0685894

C0012236

definition

congenital syndrome with the absence of the thymus and parathyroids causing impairment of cellular immunity; immunoglobulin levels are normal.

DID

0427-9991

Inverse of RB

http://purl.bioontology.org/ontology/CSP/4000-0213

http://purl.bioontology.org/ontology/CSP/0427-9828

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/0723-1051

http://purl.bioontology.org/ontology/CSP/2216-0711

notation

0427-9991

prefLabel

DiGeorge's syndrome

tui

T047

T019

subClassOf

http://purl.bioontology.org/ontology/CSP/4000-0213

http://purl.bioontology.org/ontology/CSP/0427-9828

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/0723-1051

http://purl.bioontology.org/ontology/CSP/2216-0711

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNMI/D4-C2020 SNMI CUI
http://purl.bioontology.org/ontology/RCD/PK281 RCD CUI
http://purl.bioontology.org/ontology/OMIM/MTHU008324 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU014314 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10052645 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10052645 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/93297002 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10052645 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/93297002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/MTHU073649 OMIM CUI
http://purl.bioontology.org/ontology/MESH/C536288 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10043662 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/702623002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1003550007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10048801 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10048801 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/702623002 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10043662 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10048801 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/91918005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10043662 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU015257 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU005466 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D4-C2050 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/91918005 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/1003550007 SCTSPA 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/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/MSHFRE/D004062 MSHFRE 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
http://purl.bioontology.org/ontology/ICD9CM/279.11 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/279.11 NLMVS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10012979 MEDDRA LOOM
http://purl.bioontology.org/ontology/ICD10/D82.1 ICD10 LOOM
http://purl.bioontology.org/ontology/ICD10CM/D82.1 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/D82.1 ICD10CM LOOM