About: DiGeorge Syndrome

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	DiGeorge Syndrome
rdfs:subClassOf	Congenital T-Cell Immunodeficiency
Has_NICHD_Parent	Genetic Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	DiGeorge Syndrome
UMLS_CUI	C0012236
Contributing_Source	NICHD
Legacy_Concept_Name	DiGeorge_s_Syndrome
FULL_SYN	22q11.2 Deletion SyndromeSYNCI DiGeorge AnomalySYNCI DiGeorge SyndromePTNCI DiGeorge's SyndromeSYNCI DiGeorge SequencePTNICHD
DEFINITION	A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.NCI
code	C2989
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0006369
is someValuesFrom of	nodeID://b665192 nodeID://b678133 nodeID://b693079 nodeID://b704857
is sameAs of	DiGeorge Syndrome

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