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Congenital Abnormalities

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Definition: Malformations of organs or body parts during development in utero.  general only: prefer /abnorm with specific anatomical term or specific animal: Manual 19.7+, 19.8.1; policy: Manual 23.20+   
Examples Abnormalities, Drug-Induced; Abnormalities, Multiple; Abnormalities, Radiation-Induced; Abnormalities, Severe Teratoid; Aicardi Syndrome; Cardiovascular Abnormalities; Chromosome Disorders; Digestive System Abnormalities; Eye Abnormalities; Lymphatic Abnormalities; Musculoskeletal Abnormalities; Nervous System Malformations; Respiratory System Abnormalities; Situs Inversus; Skin Abnormalities; Stomatognathic System Abnormalities; Thyroid Dysgenesis; Urogenital Abnormalities
Other names Deformities; Congenital Defects; Birth Defects; Defects, Birth; Defect, Birth; Congenital Abnormality; Abnormality, Congenital; Abnormalities, Congenital; Birth Defect; Defects, Congenital; Deformity; Defect, Congenital; Congenital Defect
 
SubstanceCAS Registry & nameCategoriesSource
Deal Barratt Dillon syndrome  0   *Congenital Abnormalities *Fanconi Syndrome *Ichthyosis *Jaundice.
Atlanto-Axial Fusion  0   *Congenital Abnormalities Atlanto-Axial Joint/abnormalities Spinal Fusion.
Pancreas agenesis, dorsal  0   *Congenital Abnormalities Pancreas/abnormalities.
Frontonasal dysplasia  0   *Congenital Abnormalities Face/abnormalities.
Laryngeal cleft  0   Larynx/abnormalities *Congenital Abnormalities.
Anotia  0   *Congenital Abnormalities Ear/abnormalities.
Arrhinia  0   *Congenital Abnormalities Nose/abnormalities.
Mullerian aplasia  0   *Congenital Abnormalities *46, XX Disorders of Sex Development Mullerian Ducts/abnormalities.
Saito Kuba Tsuruta syndrome  0   *Congenital Abnormalities Fibula/abnormalities Kidney/abnormalities Ulna/abnormalities.
Sacral agenesis  0   *Congenital Abnormalities Sacrococcygeal Region/abnormalities.
Flat umbilicus familial  0   *Congenital Abnormalities Bone and Bones/abnormalities Facial Bones/abnormalities Umbilicus/abnormalities.
Schlegelberger Grote syndrome  0   *Congenital Abnormalities *Deafness *Thrombasthenia.
Vagina, absence of  0   *Congenital Abnormalities Vagina/abnormalities.
Hereditary renal agenesis  0   *Congenital Abnormalities *Kidney Diseases/congenital Kidney/abnormalities.
Crane-Heise syndrome  0   *Congenital Abnormalities *Clubfoot.
Vertebral fusion posterior lumbosacral blepharoptosis  0   *Congenital Abnormalities *Blepharoptosis Lumbosacral Region/abnormalities.
Patterson Stevenson syndrome  0   *Congenital Abnormalities *Mandibulofacial Dysostosis.
Accessory pancreas  0   *Congenital Abnormalities Pancreas/abnormalities.
Sprengel deformity  0   *Congenital Abnormalities Scapula/abnormalities Shoulder Joint/abnormalities.
Absent breasts and nipples  0   *Congenital Abnormalities Breast/abnormalities.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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