Preferred Name

congenital disorder
Synonyms

deformity

birth defect

malformation

LEOPARD syndrome

MLS (Multiple Lentigines/LEOPARD syndrome)

Multiple Lentigines

Multiple Lentigines/LEOPARD syndrome

drug related congenital disorder

drug induced congenital disorder
Definitions

existing at, and usually before, birth; referring to conditions that are present at birth, regardless of their causation; inborn metabolism disorders are generally not treed here.
ID

0723-1051
Full Id

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

disease/disorder
RB

disease/disorder
RN

cretinism

congenital brain disorder

congenital blood disorder

congenital nervous system disorder

congenital infection

congenital gastrointestinal disorder

congenital dentition disorder

congenital hepatic porphyria

embryo/fetus disorder

DiGeorge's syndrome

congenital reproductive system disorder

congenital skin disorder

Williams syndrome

Prader Willi syndrome

congenital kidney disorder

congenital muscle disorder

congenital eye disorder

congenital cardiovascular disorder

Kallmann's syndrome

congenital oral/facial/cranial defect

congenital biliary tract disorder

congenital ear disorder

congenital skeletal disorder

Smith Lemli Opitz syndrome

congenital respiratory disorder
RO

retinoblastoma

genetic disorder

pregnancy disorder

birth injury

rubella
RQ

congenital disorder
Semantic_Type

Congenital Abnormality

Disease or Syndrome

Anatomical Abnormality
SYNONYM ET

deformity

birth defect

malformation

LEOPARD syndrome

MLS (Multiple Lentigines/LEOPARD syndrome)

Multiple Lentigines

Multiple Lentigines/LEOPARD syndrome

drug related congenital disorder

drug induced congenital disorder
TUI

T019

T047

T190
UMLS_CUI

C0870452

C1328931

C0302142

C0242354

C1328928

C0000768

C0175704
Create New Mapping

Mapping To Ontology Source Comment Relationship Added By Added On Notes
http://purl.bioontology.org/ontology/WHO/1256 WHO Adverse Reaction Terminology NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#C14.280.484.716.525 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/66091009 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000264 National Drug File NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/443341004 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#C17.800.621.430.530.550.525 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/111306001 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0175704 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10010356 MedDRA NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#C14.240.400.695 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10062901 MedDRA NLM UMLS (CUI) CUI: C0175704 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/P.... Read Codes, Clinical Terms Version 3 (CTV3) NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Congenital_Disorder NCI Thesaurus NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10057210 MedDRA NLM UMLS (CUI) CUI: C0175704 skos:closeMatch loom 04/02/13 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 04/02/13 View Notes
http://purl.obolibrary.org/obo/HP_0001003 Human Phenotype Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10010365 MedDRA NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_14291 Human disease ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/276654001 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICPC/N85 International Classification of Primary Care NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10002617 MedDRA NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#C14.280.400.695 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/276655000 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#LEOPARD_Syndrome NCI Thesaurus NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/417893002 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0302142 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10057210 MedDRA NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MSH/D009358 Medical Subject Headings (MeSH) NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.org/obo/owl/HP#HP_0001003 Bone Dysplasia Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/Xa0AO Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_759 Human disease ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/157034008 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10060920 MedDRA NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/6081001 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0302142 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/156882007 SNOMED Clinical Terms NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/107656002 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MSH/D044542 Medical Subject Headings (MeSH) NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/157028001 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MEDLINEPLUS/T1127 MedlinePlus Health Topics NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICPC/D81 International Classification of Primary Care NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/385297003 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_14291 NIF Dysfunction NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10004946 MedDRA NLM UMLS (CUI) CUI: C0242354 skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#C16.131.621.207.525 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/156882007 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0242354 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000010971 National Drug File NLM UMLS (CUI) CUI: C0175704 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/Pz... Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10048305 MedDRA NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICPC2P/A90011 ICPC-2 PLUS NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/205999005 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/112635002 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 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 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10004947 MedDRA NLM UMLS (CUI) CUI: C0242354 skos:closeMatch loom 04/02/13 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 04/02/13 View Notes
http://bioonto.de/mesh.owl#C05.660.207.525 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/P.... Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10013191 MedDRA NLM UMLS (CUI) CUI: C0242354 skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#C16.131.240.400.685 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://www.owl-ontologies.com/NPOntology.owl#DOID_14291 Natural Products Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10061619 MedDRA NLM UMLS (CUI) CUI: C0302142 skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_759 NIF Dysfunction NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#D044542 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10012563 MedDRA NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD10/Q89.9 ICD10 NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/6081001 SNOMED Clinical Terms NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD9CM/740-759.99 International Classification of Diseases NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/X50Js Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0175704 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/Xa0AN Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MSH/D044542 Medical Subject Headings (MeSH) NLM UMLS (CUI) CUI: C0175704 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/OMIM/151001 Online Mendelian Inheritance in Man NLM UMLS (CUI) CUI: C0175704 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10061619 MedDRA NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/205842001 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MSH/D009358 Medical Subject Headings (MeSH) NLM UMLS (CUI) CUI: C0242354 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10002614 MedDRA NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q89.9 ICD10CM NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://www.shojaee.com/shr/shr.owl#Deformity Student Health Record NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/403537000 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0175704 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/66091009 SNOMED Clinical Terms NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10060919 MedDRA NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://www.orphanet.org/rdfns#pat_id_1032 Experimental Factor Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/OMIM/MTHU021421 Online Mendelian Inheritance in Man NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10010316 MedDRA NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/157033002 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://www.orphanet.org/rdfns#pat_id_1032 Orphanet Ontology of Rare Diseases NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/OMIM/MTHU005416 Online Mendelian Inheritance in Man NLM UMLS (CUI) CUI: C0242354 skos:closeMatch loom 04/02/13 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 04/02/13 View Notes
http://bioonto.de/mesh.owl#C16.131.077.525 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD9CM/759.9 International Classification of Diseases NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/268359006 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_759 Neuroscience Information Framework Standard ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10010357 MedDRA NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/21390004 SNOMED Clinical Terms NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MSH/D000013 Medical Subject Headings (MeSH) NLM UMLS (CUI) CUI: C0000768 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/OMIM/MTHU005416 Online Mendelian Inheritance in Man NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_14291 Neuroscience Information Framework Standard ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://sweet.jpl.nasa.gov/2.3/phenBiol.owl#BirthDefect Semantic Web for Earth and Environment Technology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 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 04/02/13 View Notes
http://purl.bioontology.org/ontology/SNOMEDCT/417893002 SNOMED Clinical Terms NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/OMIM/151100 Online Mendelian Inheritance in Man NLM UMLS (CUI) CUI: C0175704 skos:closeMatch loom 04/02/13 View Notes

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