Congenital Abnormality

Preferred Label : Congenital Abnormality;

NCIt synonyms : Congenital Anatomical Abnormality; Congenital Defect; Congenital Anatomic Abnormality; Birth Defect; Congenital Anomaly or Birth Defect; Congenital Deformity; Congenital Malformation;

NCIt related terms : Congenital Anomaly; Congenital Defect/Deformity; Congenital Anomalies of Fetus; DEFECT/DEFORMITY, CONGENITAL; SCONG;

NCIt definition : Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.;

Alternative definition : NICHD: 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.; FDA: Any abnormality either hereditary or due an influence that happen during the pregnancy until the moment of birth.;

FDA table : Patient Code (Appendix B);

Codes from synonyms : 1782;

Details

Origin ID

C2849;

UMLS CUI

C0000768;

Automatic exact mappings (from CISMeF team)
- Birth defects [LOINC method]
- Congenital Abnormality [UMLS semantic type]
- Congenital abnormal shape of alisphenoid bone (disorder) [SNOMED CT concept]
- Congenital abnormal shape of cerebellum (disorder) [SNOMED CT concept]
- Congenital abnormal shape of cerebrum (disorder) [SNOMED CT concept]
- Congenital abnormal shape of ilium (disorder) [SNOMED CT concept]
- Congenital abnormal shape of rib (disorder) [SNOMED CT concept]
- Congenital abnormal shape of spleen (disorder) [SNOMED CT concept]
- Congenital abnormal shape of talus (disorder) [SNOMED CT concept]
- Congenital abnormal shape of uterus (disorder) [SNOMED CT concept]
- Congenital anomaly of face (disorder) [SNOMED CT concept]
- Congenital anomaly of fetus (disorder) [SNOMED CT concept]
- Congenital anomaly of joint (disorder) [SNOMED CT concept]
- Congenital deformity of face (disorder) [SNOMED CT concept]
- Congenital disease (disorder) [SNOMED CT concept]
- Congenital malformation [ACR pathology]
- Congenital malformation syndrome (disorder) [SNOMED CT concept]
- Dysmorphism (disorder) [SNOMED CT concept]
- abnormalities [MeSH Qualifier]
Currated CISMeF NLP mapping
- Anomaly congenital [MedDRA LLT]
- Birth defects [MedDRA LLT]
- CONGENITAL ANOMALIES [ICD-9 code]
- CONGENITAL ANOMALY NOS [WHO-ART Preferred Term]
- Congenital abnormality NOS [MedDRA LLT]
- Congenital anomaly [MedDRA Preferred Term]
- Congenital anomaly (disorder) [Inactive SNOMED CT concept]
- Congenital anomaly NOS [MedDRA LLT]
- Congenital deformity (disorder) [SNOMED CT concept]
- Congenital deformity (morphologic abnormality) [SNOMED CT concept]
- Congenital malformation (disorder) [SNOMED CT concept]
- Congenital malformation, unspecified [ICD-10 Sub-category]
- Developmental anomaly (morphologic abnormality) [SNOMED CT concept]
- Foetal malformation [MedDRA Preferred Term]
- birth defects [MedlinePlus Topic]
- congenital abnormalities [MeSH Descriptor]
- congenital abnormalities [MeSH concept]
- congenital malformation [Radlex concept]
- congenital malformation [Disease (Nov.)]
- developmental anomaly [Artificial nutrition thesaurus concept]
- developmental anomaly, nos [SNOMED Notion]
False automatic mappings
- Congenital anomaly (morphologic abnormality) [Inactive SNOMED CT concept]
- Congenital malformation (morphologic abnormality) [Inactive SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Anomaly congenital [MedDRA LLT]
- Birth defects [MedDRA LLT]
- CONGENITAL ANOMALIES [ICD-9 code]
- CONGENITAL ANOMALY NOS [WHO-ART Preferred Term]
- Congenital abnormality NOS [MedDRA LLT]
- Congenital anomaly [MedDRA Preferred Term]
- Congenital anomaly (disorder) [Inactive SNOMED CT concept]
- Congenital anomaly (morphologic abnormality) [Inactive SNOMED CT concept]
- Congenital anomaly NOS [MedDRA LLT]
- Congenital anomaly, unspecified [ICD-9 code]
- Congenital deformity (disorder) [SNOMED CT concept]
- Congenital deformity (morphologic abnormality) [SNOMED CT concept]
- Congenital malformation (disorder) [SNOMED CT concept]
- Congenital malformation (morphologic abnormality) [Inactive SNOMED CT concept]
- Congenital malformation, unspecified [ICD-10 Sub-category]
- Developmental anomaly (morphologic abnormality) [SNOMED CT concept]
- Developmental disturbance [MedDRA LLT]
- Fetal anomaly [HPO term]
- Fetal malformation [MedDRA LLT]
- Foetal malformation [MedDRA Preferred Term]
- congenital abnormalities [MeSH Descriptor]
- congenital abnormalities [MeSH concept]
- developmental anomaly, nos [SNOMED Notion]
- dysgenesis [Radlex concept]
Validated automatic mappings to BTNT
- Congenital anomaly of back (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- congenital disorder [Disease (Nov.)]
concept_is_in_subset
- Adverse Event Outcome ICSR Terminology [NCIt concept]
- CDISC Root Variable Terminology [NCIt concept]
- CDRH Health Effects - Clinical Signs and Syptoms or Conditions Terminology [NCIt concept]
- CPTAC Causes of Death Codelist [NCIt concept]
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Medical Conditions Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
- FDA Center For Devices and Radiological Health Terminology [NCIt concept]
- FDA Individual Case Safety Report Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Newborn Screening Terminology [NCIt concept]
- Perinatal Terminology [NCIt concept]
is_finding_of_disease
- Vulvar Congenital Melanocytic Nevus [NCIt concept]
is_not_finding_of_disease
- Vulvar Acquired Melanocytic Nevus [NCIt concept]

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