National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Congenital Abnormality

Synonyms

Congenital Anatomic Abnormality

Congenital Deformity

Congenital Anomaly or Birth Defect

Congenital Defect

Congenital Anatomical Abnormality

Congenital Defect/Deformity

Congenital Anomalies of Fetus

Congenital Abnormality

Congenital Anomaly

Birth Defect

CONGENITAL DEFECT/DEFORMITY

Congenital Malformation

DEFECT/DEFORMITY, CONGENITAL

SCONG

Definitions

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2849

ALT_DEFINITION

A morphologic defect of an organ, part of an organ, or larger region of the body that results from an intrinsically abnormal developmental process during gestation.

Any abnormality either hereditary or due an influence that happen during the pregnancy until the moment of birth.

code

C2849

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54583

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62596

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156952

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89506

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54450

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186315

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61410

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158034

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54447

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158520

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186341

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158035

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C82590

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118466

Contributing_Source

CDISC

CPTAC

FDA

NICHD

PCDC

DEFINITION

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.

FDA_Table

Patient Code (Appendix B)

FULL_SYN

Congenital Anatomic Abnormality

Congenital Deformity

Congenital Anomaly or Birth Defect

Congenital Defect

Congenital Anatomical Abnormality

Congenital Defect/Deformity

Congenital Anomalies of Fetus

Congenital Abnormality

Congenital Anomaly

Birth Defect

CONGENITAL DEFECT/DEFORMITY

Congenital Malformation

DEFECT/DEFORMITY, CONGENITAL

SCONG

label

Congenital Abnormality

Legacy Concept Name

Congenital_Abnormality

Preferred_Name

Congenital Abnormality

prefixIRI

Thesaurus:C2849

Semantic_Type

Disease or Syndrome

Congenital Abnormality

UMLS_CUI

C0000768

xRef

IMDRF:E1505

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C36287

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/STY/T019 MSTDE-FRE LOOM
http://www.semanticweb.org/administrator/ontologies/2022/0/untitled-ontology-34#OWLClass92cde8b6_6f16_4ebd_9aad_778a9164f335 WWECA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Congenital_Abnormality CSEO LOOM
http://www.semanticweb.org/luyu/ontologies/2021/3/pregnancy_information_needs_ontology#Congenital_abnormality PINO LOOM
http://doe-generated-ontology.com/OntoAD#C0000768 ONTOAD LOOM
http://purl.obolibrary.org/obo/MONDO_0000839 EPIO LOOM
http://purl.obolibrary.org/obo/MONDO_0000839 KTAO LOOM
http://www.owl-ontologies.com/assert.owl#Congenital_abnormality ONTOKBCF LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#541 OCHV LOOM
http://purl.bioontology.org/ontology/STY/T019 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/STY/T019 ICD10PCS LOOM
http://purl.bioontology.org/ontology/STY/T019 RCD LOOM
http://purl.bioontology.org/ontology/STY/T019 CPT LOOM
http://purl.bioontology.org/ontology/STY/T019 ICD9CM LOOM
http://purl.bioontology.org/ontology/STY/T019 MEDDRA LOOM
http://purl.bioontology.org/ontology/STY/T019 WHO-ART LOOM
http://purl.bioontology.org/ontology/STY/T019 ICD10CM LOOM
http://purl.bioontology.org/ontology/STY/T019 ICPC2P LOOM
http://purl.bioontology.org/ontology/STY/T019 MDDB LOOM
http://purl.bioontology.org/ontology/STY/T019 ICD10 LOOM
http://purl.bioontology.org/ontology/STY/T019 MESH LOOM
http://purl.bioontology.org/ontology/STY/T019 STY LOOM
http://purl.bioontology.org/ontology/STY/T019 SNMI LOOM
http://purl.bioontology.org/ontology/STY/T019 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/STY/T019 AI-RHEUM LOOM
http://purl.bioontology.org/ontology/STY/T019 ATC LOOM
http://purl.bioontology.org/ontology/STY/T019 PDQ LOOM
http://purl.bioontology.org/ontology/STY/T019 MSTDE LOOM
http://purl.bioontology.org/ontology/STY/T019 HL7 LOOM
http://purl.bioontology.org/ontology/STY/T019 NDFRT LOOM
http://purl.bioontology.org/ontology/STY/T019 CRISP LOOM
http://purl.bioontology.org/ontology/STY/T019 OMIM LOOM
http://purl.bioontology.org/ontology/STY/T019 COSTART LOOM
http://purl.bioontology.org/ontology/STY/T019 NCBITAXON LOOM
http://purl.bioontology.org/ontology/STY/T019 HCPCS LOOM
http://purl.bioontology.org/ontology/STY/T019 NDDF LOOM
http://purl.bioontology.org/ontology/STY/T019 VANDF LOOM
http://purl.bioontology.org/ontology/STY/T019 LOINC LOOM
http://purl.bioontology.org/ontology/STY/T019 RXNORM LOOM
http://purl.bioontology.org/ontology/STY/T019 ROO LOOM
http://purl.obolibrary.org/obo/NCIT_C2849 BERO LOOM
http://purl.obolibrary.org/obo/NCIT_C2849 HHEAR LOOM
http://doe-generated-ontology.com/OntoAD#CongenitalAbnormality ONTOAD LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Abnormality PEDTERM LOOM