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Congenital Abnormality

Go to external page http://purl.obolibrary.org/obo/NCIT_C2849

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

Term info

Label

Congenital Abnormality

Synonyms
  • Birth Defect
  • CONGENITAL DEFECT/DEFORMITY
  • Congenital Abnormality
  • Congenital Anatomic Abnormality
  • Congenital Anatomical Abnormality
  • Congenital Anomalies of Fetus
  • Congenital Anomaly
  • Congenital Anomaly or Birth Defect
  • Congenital Defect
  • Congenital Defect/Deformity
  • Congenital Deformity
  • Congenital Malformation
  • DEFECT/DEFORMITY, CONGENITAL
  • Defect/Deformity, Congenital
  • Deformity/Defect, Congenital
  • SCONG
Subsets

NCIT_C99147, NCIT_C54447, NCIT_C82590, NCIT_C62596, NCIT_C90259, NCIT_C158034, NCIT_C61410, NCIT_C158035, NCIT_C158520, NCIT_C89506, NCIT_C54583, NCIT_C54450, NCIT_C156952, NCIT_C118466

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.

Contributing Source

FDA, CDISC, NICHD, CPTAC

FDA Table

Patient Code (Appendix B)

Has CDRH Parent

http://purl.obolibrary.org/obo/NCIT_C54450

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C89328, http://purl.obolibrary.org/obo/NCIT_C36287

Legacy Concept Name

Congenital_Abnormality

NICHD Hierarchy Term

Congenital Malformation

Preferred Name

Congenital Abnormality

Semantic Type

Disease or Syndrome, Congenital Abnormality

UMLS CUI

C0000768

code

C2849

Term relations