Preferred Name

congenital disorder

Synonyms

malformation

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

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

altLabel

malformation

Multiple Lentigines/LEOPARD syndrome

deformity

MLS (Multiple Lentigines/LEOPARD syndrome)

birth defect

drug induced congenital disorder

drug related congenital disorder

LEOPARD syndrome

Multiple Lentigines

cui

C0000768

C0242354

C0302142

C1328931

C0870452

C1328928

C0175704

definition

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.

DID

0723-1051

Inverse of RB

http://purl.bioontology.org/ontology/CSP/0944-4756

Inverse of RN

http://purl.bioontology.org/ontology/CSP/0727-4987

http://purl.bioontology.org/ontology/CSP/5006-0009

http://purl.bioontology.org/ontology/CSP/1849-7731

http://purl.bioontology.org/ontology/CSP/4006-0100

http://purl.bioontology.org/ontology/CSP/0726-3953

http://purl.bioontology.org/ontology/CSP/2586-8846

http://purl.bioontology.org/ontology/CSP/0723-2277

http://purl.bioontology.org/ontology/CSP/0723-1358

http://purl.bioontology.org/ontology/CSP/2928-6883

http://purl.bioontology.org/ontology/CSP/1849-7674

http://purl.bioontology.org/ontology/CSP/0726-8244

http://purl.bioontology.org/ontology/CSP/0725-1080

http://purl.bioontology.org/ontology/CSP/0723-5955

http://purl.bioontology.org/ontology/CSP/2403-8856

http://purl.bioontology.org/ontology/CSP/4000-0153

http://purl.bioontology.org/ontology/CSP/0725-4145

http://purl.bioontology.org/ontology/CSP/0723-8720

http://purl.bioontology.org/ontology/CSP/0724-1572

http://purl.bioontology.org/ontology/CSP/0724-7089

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

http://purl.bioontology.org/ontology/CSP/0725-7823

http://purl.bioontology.org/ontology/CSP/5002-0023

http://purl.bioontology.org/ontology/CSP/0724-2798

http://purl.bioontology.org/ontology/CSP/0429-1873

http://purl.bioontology.org/ontology/CSP/0726-2114

Inverse of RO

http://purl.bioontology.org/ontology/CSP/2403-8085

http://purl.bioontology.org/ontology/CSP/3100-2791

http://purl.bioontology.org/ontology/CSP/1254-7727

http://purl.bioontology.org/ontology/CSP/2018-3452

http://purl.bioontology.org/ontology/CSP/1582-4853

Inverse of SIB

http://purl.bioontology.org/ontology/CSP/2587-5807

http://purl.bioontology.org/ontology/CSP/4000-0257

http://purl.bioontology.org/ontology/CSP/1579-2995

http://purl.bioontology.org/ontology/CSP/2483-6609

http://purl.bioontology.org/ontology/CSP/0571-0209

http://purl.bioontology.org/ontology/CSP/1254-7727

http://purl.bioontology.org/ontology/CSP/3045-8726

http://purl.bioontology.org/ontology/CSP/5002-0022

http://purl.bioontology.org/ontology/CSP/2000-0173

http://purl.bioontology.org/ontology/CSP/1114-8096

http://purl.bioontology.org/ontology/CSP/2341-6246

http://purl.bioontology.org/ontology/CSP/2146-8713

http://purl.bioontology.org/ontology/CSP/1582-3104

http://purl.bioontology.org/ontology/CSP/0531-6510

http://purl.bioontology.org/ontology/CSP/0729-7208

http://purl.bioontology.org/ontology/CSP/2116-6840

http://purl.bioontology.org/ontology/CSP/0944-7360

http://purl.bioontology.org/ontology/CSP/0977-5187

http://purl.bioontology.org/ontology/CSP/5000-0012

http://purl.bioontology.org/ontology/CSP/1025-5693

http://purl.bioontology.org/ontology/CSP/2716-5992

http://purl.bioontology.org/ontology/CSP/0944-5779

http://purl.bioontology.org/ontology/CSP/4001-0049

http://purl.bioontology.org/ontology/CSP/1560-4280

http://purl.bioontology.org/ontology/CSP/0427-7757

http://purl.bioontology.org/ontology/CSP/4000-0216

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

http://purl.bioontology.org/ontology/CSP/4000-0163

http://purl.bioontology.org/ontology/CSP/2042-2001

http://purl.bioontology.org/ontology/CSP/2596-0107

http://purl.bioontology.org/ontology/CSP/0427-3600

http://purl.bioontology.org/ontology/CSP/1846-2030

notation

0723-1051

prefLabel

congenital disorder

tui

T190

T019

T047

subClassOf

http://purl.bioontology.org/ontology/CSP/0944-4756

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/21390004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-01048 SNMI CUI
http://purl.bioontology.org/ontology/RCD/Xa0AN RCD CUI
http://purl.bioontology.org/ontology/ICD9CM/759.9 ICD9CM CUI
http://purl.bioontology.org/ontology/LNC/LP200393-9 LOINC CUI
http://purl.bioontology.org/ontology/CST/MATFETBIRTH COSTART CUI
http://purl.bioontology.org/ontology/SCTSPA/6081001 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10002617 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/111306001 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10048305 MEDDRA CUI
http://purl.bioontology.org/ontology/CST/PERINATAL%20DIS COSTART CUI
http://purl.bioontology.org/ontology/MESH/D044542 MESH CUI
http://purl.bioontology.org/ontology/RCD/X50Js RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/385297003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CST/MATFETDEV COSTART CUI
http://purl.bioontology.org/ontology/MDRFRE/10060920 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/Xa0AO RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10062901 MEDDRA CUI
http://purl.bioontology.org/ontology/ICPCFRE/N85 ICPCFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10010357 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/P.... RCD CUI
http://purl.bioontology.org/ontology/RCD/P.... RCD CUI
http://purl.bioontology.org/ontology/RCD/P.... RCD LOOM
http://purl.bioontology.org/ontology/MESH/D000013 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000010971 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10012563 MEDDRA CUI
http://purl.bioontology.org/ontology/ICPCFRE/D81 ICPCFRE CUI
http://purl.bioontology.org/ontology/WHO/1256 WHO-ART CUI
http://purl.bioontology.org/ontology/LNC/LA20354-9 LOINC CUI
http://purl.bioontology.org/ontology/SCTSPA/276654001 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10010316 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/417893002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000264 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10061619 MDRFRE CUI
http://purl.bioontology.org/ontology/CST/ANOMALY%20CONGEN COSTART CUI
http://purl.bioontology.org/ontology/SCTSPA/21390004 SCTSPA CUI
http://purl.bioontology.org/ontology/WHOFRE/1256 WHOFRE CUI
http://purl.obolibrary.org/obo/DOID_759 CLO LOOM
http://purl.obolibrary.org/obo/DOID_759 DOID LOOM
http://purl.bioontology.org/ontology/LNC/LA18225-5 LOINC CUI
http://purl.bioontology.org/ontology/MDRFRE/10060919 MDRFRE CUI
http://radlex.org/RID/RID35738 RADLEX LOOM
http://purl.bioontology.org/ontology/MEDDRA/10060920 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10057210 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10010357 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10012563 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D044542 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D000013 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10002617 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10057210 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/151100 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/385297003 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10010356 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D009358 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10010316 MEDDRA CUI
http://purl.bioontology.org/ontology/CST/TERAT COSTART CUI
http://purl.bioontology.org/ontology/MESH/D009358 MESH CUI
http://purl.bioontology.org/ontology/ICD10/Q89.9 ICD10 CUI
http://purl.bioontology.org/ontology/MDRFRE/10048305 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/66091009 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-00000 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/6081001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10062901 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/276655000 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU021421 OMIM CUI
http://purl.bioontology.org/ontology/ICPC2P/A90011 ICPC2P CUI
http://purl.bioontology.org/ontology/SNMI/M-20000 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10061619 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU005416 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU005416 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/276654001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/66091009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/417893002 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/276655000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD9CM/740-759.99 ICD9CM CUI
http://purl.bioontology.org/ontology/ICD10CM/Q89.9 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0000768 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111306001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10010356 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU030713 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10060919 MEDDRA CUI