SNOMED Clinical Terms - DiGeorge sequence - Terms

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Preferred Name	DiGeorge sequence
Synonyms	Pharyngeal pouch syndrome Thymic hypoplasia syndrome DiGeorge syndrome Thymic-parathyroid aplasia Branchial arch syndrome DiGeorge anomaly DiGeorge sequence (disorder) Agenesis of the parathyroid AND thymus glands Third AND fourth pharyngeal arch syndrome Third AND fourth pharyngeal pouch syndrome Agenesis of the parathyroid and thymus glands Third and fourth pharyngeal arch syndrome Third and fourth pharyngeal pouch syndrome
ID	77128003
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/77128003
CONCEPTSTATUS	0
CTV3ID	C3911
has_associated_morphology	Congenital anomaly Hypoplasia Congenital absence
has_clinical_course	Courses
has_finding_site	Fourth pharyngeal pouch structure Structure of third pharyngeal pouch Parathyroid structure Thymus gland structure
has_severity	Severities
inverse_may_be_a	DiGeorge syndrome
isa	Malformation sequence Disorder of parathyroid gland Congenital anomaly of the thymus Multisystem disorder
ISPRIMITIVE	1
occurs_in	Congenital
Semantic_Type	Disease or Syndrome
SNOMEDID	D4-01532
SYNONYM FN	DiGeorge sequence (disorder)
SYNONYM IS	Agenesis of the parathyroid and thymus glands Third and fourth pharyngeal arch syndrome Third and fourth pharyngeal pouch syndrome
SYNONYM SY	Pharyngeal pouch syndrome Thymic hypoplasia syndrome DiGeorge syndrome Thymic-parathyroid aplasia Branchial arch syndrome DiGeorge anomaly Agenesis of the parathyroid AND thymus glands Third AND fourth pharyngeal arch syndrome Third AND fourth pharyngeal pouch syndrome
TUI	T047
UMLS_CUI	C0012236

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://bioonto.de/mesh.owl#D004062	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/188400	Online Mendelian Inheritance in Man	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C05.660.207.103.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.org/obo/owl/MP#MP_0002538	Suggested Ontology for Pharmacogenomics	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MSH/D004062	Medical Subject Headings (MeSH)	NLM UMLS (CUI)	CUI: C0012236	skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C16.131.260.019.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C14.280.400.044.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://www.orphanet.org/rdfns#pat_id_126	Experimental Factor Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/C3911	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0012236	skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C15.604.451.249.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://uwhealth.org/himc/icd/icd09/#279.11	ICD09	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#DiGeorge_s_Syndrome	NCI Thesaurus	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C14.240.400.021.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://www.owl-ontologies.com/NPOntology.owl#DOID_11198	Natural Products Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICD9CM/279.11	International Classification of Diseases	NLM UMLS (CUI)	CUI: C0012236	skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DOID_11198	Neuroscience Information Framework Standard ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000971	National Drug File	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C16.131.482.249.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C16.131.240.400.021.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/0427-9991	CRISP Thesaurus, 2006	NLM UMLS (CUI)	CUI: C0012236	skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C19.642.482.500.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DOID_11198	NIF Dysfunction	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MSH/D004062	Medical Subject Headings (MeSH)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICD10/D82.1	ICD10	NLM UMLS (CUI)	CUI: C0012236	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/188400	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0012236	skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C16.131.621.207.103.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C16.320.180.019.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICD10CM/D82.1	ICD10CM	NLM UMLS (CUI)	CUI: C0012236	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000971	National Drug File	NLM UMLS (CUI)	CUI: C0012236	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10012979	MedDRA	NLM UMLS (CUI)	CUI: C0012236	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/C3911	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/MP_0002538	Mammalian phenotype	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10043664	MedDRA	NLM UMLS (CUI)	CUI: C0012236	skos:closeMatch	loom	04/02/13	View Notes
http://bioonto.de/mesh.owl#C16.131.077.019.500	OWL Version of MeSH	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DOID_11198	Human disease ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10043664	MedDRA	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DIS_0219	Immune Disorder Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DIS_0436	Immune Disorder Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes

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