congenital abnormalities

Preferred Label : congenital abnormalities;

MeSH definition : Malformations of organs or body parts during development in utero.;

MeSH synonym : deformity; abnormalities, congenital; abnormality, congenital; birth defects; birth defect; deformities; congenital abnormality; congenital defect; defect, birth; defect, congenital; defects, congenital; congenital defects;

CISMeF synonym : ab; defects, birth;

DeCS synonym : Congenital Malformations; Birth Defects; Deformities; Congenital Defects;

Related MeSH term : Fetal Malformation; Malformation, Fetal; Anomaly, Fetal; Fetal Anomaly;

MeSH annotation : general only: prefer /abnorm with specific anatomical term or specific animal: Manual 19.7 , 19.8.1; policy: Manual 23.20 ; general only; prefer specifics or /abnorm with specific anatomical term or specific animal;

Wikipedia link : https://en.wikipedia.org/wiki/Deformity;

Details

Origin ID

D000013;

UMLS CUI

C0000768;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- classification [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- AB Term Type [NCIt concept]
- AB Zebrafish [NCIt concept]
- AB hearing assessment list (physical object) [SNOMED CT concept]
- AB(S) hearing assessment list (physical object) [SNOMED CT concept]
- Abscess [LOINC System]
- Acromesomelic dysplasia group (disorder) [SNOMED CT concept]
- Acromicric dysplasia (disorder) [SNOMED CT concept]
- Anismus (disorder) [SNOMED CT concept]
- Antibody [NCIt concept]
- Birth defects [LOINC method]
- Bladder neck dyssynergia (disorder) [SNOMED CT concept]
- Cementoma (morphologic abnormality) [SNOMED CT concept]
- Chondroectodermal dysplasia (disorder) [SNOMED CT concept]
- Congenital Abnormality [UMLS semantic type]
- Congenital abnormal roundness (morphologic abnormality) [SNOMED CT concept]
- 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 fetus (disorder) [SNOMED CT concept]
- Congenital anomaly of integument (disorder) [SNOMED CT concept]
- Congenital anomaly of joint (disorder) [SNOMED CT concept]
- Congenital anomaly of lens (disorder) [SNOMED CT concept]
- Congenital anomaly of scapula (disorder) [SNOMED CT concept]
- Congenital anomaly of valve [ICD-11 More detail]
- Congenital atrophy of optic nerve (disorder) [SNOMED CT concept]
- Congenital deficiency (morphologic abnormality) [Inactive SNOMED CT concept]
- Congenital disease (disorder) [SNOMED CT concept]
- Congenital hip dysplasia (disorder) [SNOMED CT concept]
- Congenital malformation of genital organs (disorder) [SNOMED CT concept]
- Congenital malformation syndrome (disorder) [SNOMED CT concept]
- Congenital malformation, unspecified [ICD-10 Sub-category (who)]
- Constricting bands, congenital [OMIM Phenotype]
- Deformation [PASCAL descriptor]
- Developmental anomalies [Chapitre CIM-11]
- Diffuse glomerulosclerosis (morphologic abnormality) [SNOMED CT concept]
- Dysmorphism (disorder) [SNOMED CT concept]
- Familial caudal dysgenesis (disorder) [SNOMED CT concept]
- Idiopathic detrusor overactivity (disorder) [SNOMED CT concept]
- Jarcho-Levin syndrome (disorder) [SNOMED CT concept]
- Little NOS Ab [LOINC component]
- Malformation [PASCAL descriptor]
- Malformations [PASCAL theme]
- Malformations [PASCAL theme]
- Malformations [PASCAL theme]
- Malformations [PASCAL theme]
- Misshapen [NCIt concept]
- Monostotic fibrous dysplasia (disorder) [SNOMED CT concept]
- Oculoskeletal dysplasia (disorder) [SNOMED CT concept]
- Other Ab [LOINC component]
- Other congenital anomaly NOS [MedDRA LLT]
- Other congenital malformations [ICD-10 Block (who)]
- Patellar clunk syndrome (disorder) [SNOMED CT concept]
- Pelvic lymphangiography, bilateral (procedure) [SNOMED CT concept]
- Polyostotic fibrous dysplasia of bone (disorder) [SNOMED CT concept]
- Rare developmental defect during embryogenesis [ORDO Disease]
- S Ab [LOINC component]
- Transitional cell dysplasia (morphologic abnormality) [SNOMED CT concept]
- Unidentified Ab [LOINC component]
- congenital abnormal number, nos [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
- distorted [Radlex concept]
- little c Ab [LOINC component]
- little e Ab [LOINC component]
- little f Ab [LOINC component]
- little i Ab [LOINC component]
- little k Ab [LOINC component]
- little s Ab [LOINC component]
- malformation syndrome [ORDO Disease]
- pk Ab [LOINC component]
False UMLS correspondences (reviewed by CISMeF team)
- Congenital anomaly (disorder) [Inactive SNOMED CT concept]
- Congenital malformation (disorder) [SNOMED CT concept]
Mapping VCM hiérarchique
- deformity [VCM modifier]
MedlinePlus topic(s)
- birth defects [MedlinePlus Topic]
Metaterm(s)
- teratogenicity [CISMeF Metaterm]
Record concept(s)
- Fetal Anomalies [MeSH concept]
- Fetal Malformations [MeSH concept]
- congenital abnormalities [MeSH concept]
Related MeSH Supplementary Concept(s)
- AICAR transformylase inosine monophosphate cyclohydrolase deficiency [MeSH Supplementary Concept]
- Atlanto-Axial fusion [MeSH Supplementary Concept]
- Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia [MeSH Supplementary Concept]
- Crane-Heise syndrome [MeSH Supplementary Concept]
- Microtia-Anotia [MeSH Supplementary Concept]
- accessory pancreas [MeSH Supplementary Concept]
- arrhinia [MeSH Supplementary Concept]
- aural atresia, congenital [MeSH Supplementary Concept]
- bile and pancreatic ducts, complete absence of [MeSH Supplementary Concept]
- caudal duplication anomaly [MeSH Supplementary Concept]
- cryptotia, familial [MeSH Supplementary Concept]
- deal barratt dillon syndrome [MeSH Supplementary Concept]
- gallbladder, agenesis of [MeSH Supplementary Concept]
- hereditary renal agenesis [MeSH Supplementary Concept]
- hydrocephalus, skeletal anomalies, and mental disturbance [MeSH Supplementary Concept]
- hymen, imperforate [MeSH Supplementary Concept]
- laryngeal cleft [MeSH Supplementary Concept]
- laryngeal web, familial [MeSH Supplementary Concept]
- mullerian aplasia [MeSH Supplementary Concept]
- nasal bones, absence of [MeSH Supplementary Concept]
- pancreas agenesis, dorsal [MeSH Supplementary Concept]
- patterson stevenson syndrome [MeSH Supplementary Concept]
- renal and mullerian duct hypoplasia [MeSH Supplementary Concept]
- rhiny [MeSH Supplementary Concept]
- saito kuba tsuruta syndrome [MeSH Supplementary Concept]
- schlegelberger grote syndrome [MeSH Supplementary Concept]
- sprengel deformity [MeSH Supplementary Concept]
- stridor, congenital [MeSH Supplementary Concept]
- vagina, absence of [MeSH Supplementary Concept]
- vertebral fusion posterior lumbosacral blepharoptosis [MeSH Supplementary Concept]
Related MeSH term(s)
- abnormalities, drug-induced [MeSH Descriptor]
SNOMED CT : Morphologiquement associé
- chromosome aberrations [MeSH Descriptor]
- open bite [MeSH Descriptor]
- sex chromosome aberrations [MeSH Descriptor]
SNOMED CT : is a
- hamartoma [MeSH Descriptor]
- placenta accreta [MeSH Descriptor]
- polycystic kidney, autosomal recessive [MeSH Descriptor]
See also
- abnormalities [MeSH Qualifier]
- fetal diseases [MeSH Descriptor]
- infant, newborn, diseases [MeSH Descriptor]
- teratogenesis [MeSH Descriptor]
See also (suggested by CISMeF)
- abnormalities, drug-induced [MeSH Descriptor]
- congenital [MeSH Qualifier]
- fetal therapies [MeSH Descriptor]
- teratology [MeSH Descriptor]
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 [NCIt concept]
- Congenital abnormality NOS [MedDRA LLT]
- Congenital anomaly [MedDRA Preferred Term]
- 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 (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]
- developmental anomaly, nos [SNOMED Notion]
- dysgenesis [Radlex concept]
Validated automatic mappings to NTBT
- congenital disorder [Disease (Nov.)]

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