SNOMED Clinical Terms - Congenital disease

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Preferred Name	Congenital disease
Synonyms	Congenital abnormality Congenital disorder Fetal developmental abnormality Congenital disease (disorder) Congenital disease, NOS
ID	66091009
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/66091009
associated_finding_of	H/O: congenital anomaly FH: Congenital anomaly
CONCEPTSTATUS	0
CTV3ID	P....
has_clinical_course	Courses
has_severity	Severities
inverse_may_be_a	(Congenital anomaly NOS) or (thyroglossal cyst) or (situs inversus) or (Marfan's syndrome) or (tuberose sclerosis) (Congenital anomaly face/neck NOS) or (branchial fistula/sinus)
inverse_was_a	Multiple system congenital anomalies NEC Other specified anomalies NOS Other nonteratogenic anomaly NOS Other hamartoses NEC Integument anomalies NOS Multiple congenital anomalies NOS Other and unspecified congenital anomalies Congenital anomaly NOS Congenital face or neck anomaly NOS Other specified congenital anomaly Other specified anomalies (Congenital anomaly face/neck NOS) or (branchial fistula/sinus) Other specified face and neck anomalies Congenital anomaly NOS Unspecified anomaly of connective tissue Other congenital anomalies Congenital anomaly of face NOS Other anomalies NOS Other specified hamartoses NEC CNS/head/neck congenital anomaly NOS Other specified integument anomaly Hamartoses NOS Other specified nonteratogenic anomalies Congenital anomaly NOS Local gigantism NEC Other nonteratogenic anomalies OS Congenital anomaly NOS Nonteratogenic anomalies NOS Multiple congenital anomalies NOS CNS/head/neck congenital anomaly NOS Embryopathia NEC Other specified face and neck anomalies NOS Other congenital anomalies Integument anomalies NOS
isa	Disease
ISPRIMITIVE	0
occurs_in	Congenital
replaces	Unspecified atresia
same_as	Congenital disorder
Semantic_Type	Congenital Abnormality Disease or Syndrome
SNOMEDID	D4-00000
SYNONYM FN	Congenital disease (disorder)
SYNONYM IS	Congenital disease, NOS
SYNONYM SY	Congenital abnormality Congenital disorder Fetal developmental abnormality
TUI	T019 T047
UMLS_CUI	C0242354 C0000768

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.obolibrary.org/obo/DOID_759	NIF Dysfunction	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/ICD9CM/759.9	International Classification of Diseases, Version 9 - Clinical Modification	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10004947	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0242354	skos:closeMatch	loom	05/21/13	View Notes
http://www.shojaee.com/shr/shr.owl#Congenital_Disease	Student Health Record	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99210	NCI Thesaurus	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/CST/MATFETDEV	Coding Symbols for a Thesaurus of Adverse Reaction Terms	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/ICPC/N85	International Classification of Primary Care	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/CST/MATFETBIRTH	Coding Symbols for a Thesaurus of Adverse Reaction Terms	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10010316	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10010356	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/Xa0AO	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/OMIM/MTHU005416	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0242354	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MSH/D009358	Medical Subject Headings	NLM UMLS (CUI)	CUI: C0242354	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/Xa0AN	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10013191	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0242354	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10010365	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/OMIM/MTHU005416	Online Mendelian Inheritance in Man	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.obolibrary.org/obo/DOID_759	Human Disease Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/ICPC/D81	International Classification of Primary Care	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10060919	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.obolibrary.org/obo/DOID_759	Neuroscience Information Framework Standard ontology	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/Pz...	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/CST/TERAT	Coding Symbols for a Thesaurus of Adverse Reaction Terms	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000264	National Drug File	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/OMIM/MTHU021421	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MSH/D000013	Medical Subject Headings	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/WHO/1256	WHO Adverse Reaction Terminology	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://bioontology.org/projects/ontologies/radlex/radlexOwlDlComponent#RID35738	RadLex	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://www.owl-ontologies.com/assert.owl#Congenital_abnormality	Ontological Knowledge Base Model for Cystic Fibrosis	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10004946	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0242354	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/CST/ANOMALY%20CONGEN	Coding Symbols for a Thesaurus of Adverse Reaction Terms	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/P....	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10010357	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/CSP/0723-1051	Computer Retrieval of Information on Scientific Projects Thesaurus	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10012563	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MEDLINEPLUS/T1127	MedlinePlus Health Topics	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/CSP/0723-1051	Computer Retrieval of Information on Scientific Projects Thesaurus	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/ICPC2P/A90011	International Classification of Primary Care - 2 PLUS	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/CST/PERINATAL%20DIS	Coding Symbols for a Thesaurus of Adverse Reaction Terms	NLM UMLS (CUI)	CUI: C0242354	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q89.9	International Classification of Diseases, Version 10 - Clinical Modfication	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10002617	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/P....	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/CSP/1254-7727	Computer Retrieval of Information on Scientific Projects Thesaurus	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2849	NCI Thesaurus	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/ICD9CM/740-759.99	International Classification of Diseases, Version 9 - Clinical Modification	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/CSP/1354-8678	Computer Retrieval of Information on Scientific Projects Thesaurus	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10002614	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10060920	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/ICD10/Q89.9	International Classification of Diseases, Version 10	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MDR/10048305	Medical Dictionary for Regulatory Activities	NLM UMLS (CUI)	CUI: C0000768	skos:closeMatch	loom	05/21/13	View Notes

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