Preferred Name

congenital oral/facial/cranial defect

Synonyms

congenital facial defect

OAV (oculoauriculovertebral) dysplasia

Definitions

structural deformities, malformations, or other abnormalities of the cranium, oral and facial bones, muscles, cartilage, etc, that exist at, and usually before, birth regardless of their causation.

ID

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

altLabel

congenital facial defect

congenital oral defect

skull abnormality

microcephaly

VDWS

van der Woude syndrome

congenital cranial defect

OAV (oculoauriculovertebral) dysplasia

cui

C0596372

C0265240

C0175697

C0266617

C0920446

C4759713

C0265527

C0025958

definition

structural deformities, malformations, or other abnormalities of the cranium, oral and facial bones, muscles, cartilage, etc, that exist at, and usually before, birth regardless of their causation.

DID

0725-7823

Inverse of RB

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

Inverse of RN

http://purl.bioontology.org/ontology/CSP/0725-8436

http://purl.bioontology.org/ontology/CSP/5002-0024

http://purl.bioontology.org/ontology/CSP/0725-9049

http://purl.bioontology.org/ontology/CSP/0725-9662

http://purl.bioontology.org/ontology/CSP/0726-1501

http://purl.bioontology.org/ontology/CSP/0726-0275

Inverse of RO

http://purl.bioontology.org/ontology/CSP/0828-0533

http://purl.bioontology.org/ontology/CSP/5004-0080

http://purl.bioontology.org/ontology/CSP/2139-2108

notation

0725-7823

prefLabel

congenital oral/facial/cranial defect

tui

T047

T019

subClassOf

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

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/367462009 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q38.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/398206004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10062348 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU071772 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10050349 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10051934 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10050349 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1010685005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/703973009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/1010685005 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/164210 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10051934 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D006053 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001375 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D006053 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/254026007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10051934 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-01301 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X7894 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/367462009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/605591 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10050349 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/205418005 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/109393007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254026007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/703973009 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205418005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/PG0F. RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/254025006 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/109393007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/79261008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-00704 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/119300 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/79261008 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C536528 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10016028 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU004921 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10016028 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/MTHU045919 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/32003007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/398302004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10016045 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10016045 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10016027 MDRGER CUI
http://purl.bioontology.org/ontology/CST/ANOMALY%20CONGEN%20MS COSTART CUI
http://purl.bioontology.org/ontology/SNMI/D4-B1000 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10016027 MEDDRA CUI
http://purl.bioontology.org/ontology/WHOFRE/0817 WHOFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/398302004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10016028 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X788C RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10016045 MEDDRA CUI
http://purl.bioontology.org/ontology/WHO/0817 WHO-ART CUI
http://purl.bioontology.org/ontology/MDRFRE/10016027 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/398206004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10062348 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10062348 MDRFRE CUI
http://purl.bioontology.org/ontology/CST/ANOMALY%20CONGEN%20MS COSTART CUI
http://purl.bioontology.org/ontology/MDRGER/10025530 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10040963 MDRGER CUI
http://purl.bioontology.org/ontology/WHO/1169 WHO-ART CUI
http://purl.bioontology.org/ontology/MDRFRE/10040963 MDRFRE CUI
http://purl.bioontology.org/ontology/WHOFRE/1169 WHOFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10040963 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10025530 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10025530 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/MTHU066534 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/51655004 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q75.9 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/253979005 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/51655004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10010625 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253979005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10010625 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10010625 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-11100 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-91050 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D008831 MESH CUI
http://purl.bioontology.org/ontology/ICPC2P/N85007 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRFRE/10027534 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10027532 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10068320 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10027534 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10027532 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10068320 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10068320 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10027532 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10027533 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002010 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D008831 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q02 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD9CM/742.1 ICD9CM CUI
http://purl.bioontology.org/ontology/LNC/LA19663-6 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10027533 MEDDRA CUI
http://purl.bioontology.org/ontology/WHO/0696 WHO-ART CUI
http://purl.bioontology.org/ontology/MDRGER/10027534 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/P21.. RCD CUI
http://purl.bioontology.org/ontology/WHOFRE/0696 WHOFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q02 ICD10 CUI
http://purl.bioontology.org/ontology/CST/ANOMALY%20CONGEN%20CNS COSTART CUI
http://purl.bioontology.org/ontology/MDRFRE/10027533 MDRFRE CUI