National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Congenital Abnormality

ID

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

ALT_DEFINITION

Abnormal or anomalous formation or structure.

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.

code

C2849

Concept_In_Subset

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

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

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

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120531

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#C54447

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#C77526

Contributing_Source

CDISC

NICHD

FDA

DEFINITION

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

FDA_Table

Patient Code (Appendix B)

FULL_SYN

SCONG

DEFECT/DEFORMITY, CONGENITAL

Congenital Anomaly

Congenital Anatomical Abnormality

Congenital Anomaly or Birth Defect

MALFORMATION

Deformity/Defect, Congenital

Congenital Defect

Congenital Deformity

Birth Defect

CONGENITAL DEFECT/DEFORMITY

Congenital Anomalies of Fetus

Congenital Malformation

Congenital Anatomic Abnormality

Has_CDRH_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54027

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89328

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

label

Congenital Abnormality

Legacy_Concept_Name

Congenital_Abnormality

NICHD_Hierarchy_Term

Congenital Malformation

Preferred_Name

Congenital Abnormality

prefixIRI

C2849

prefLabel

Congenital Abnormality

Semantic_Type

Disease or Syndrome

Congenital Abnormality

UMLS_CUI

C0000768

subClassOf

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

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http://purl.bioontology.org/ontology/STY/T019 MedlinePlus Health Topics LOOM
http://purl.bioontology.org/ontology/STY/T019 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/STY/T019 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bioontology.org/ontology/STY/T019 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/STY/T019 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/STY/T019 Semantic Types Ontology LOOM