Home›Congenital Malformations and Chromosomal Abnormalities›Prevalence Band›Rare (Under 1 in 2000)Browse ByRare (Under 1 in 2000)FactsRare (Under 1 in 2000)SourcesComments (0)Reader Challenges (0)FactsComparisonICD-10 Chapter NumberWell-attestedXVII 1ICD-10 Code RangeWell-attestedQ00-Q99 1Rare (Under 1 in 2000)Filter Results192 entriesBody SystemAllCardiovascular System (28)Digestive System (4)Ear (8)Endocrine System (4)Eye (15)Integumentary System (34)Lymphatic or Immune System (5)Muscular System (4)Nervous System (27)Reproductive System (6)Respiratory System (5)Skeletal System (52)Urinary System (12)ICD-10 ChapterAllIV: Endocrine, Nutritional and Metabolic Diseases (1)IX: Diseases of the Circulatory System (2)VI: Diseases of the Nervous System (1)XIII: Diseases of the Musculoskeletal System and Connective Tissue (1)XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities (130)Communicable or Non-communicableAllNon-Communicable (182)Causative AgentAllGenetic / Hereditary (173)Idiopathic / Multifactorial (7)Transmission RouteAllNon-Transmissible (70)Era (First Described)All1542 (1)1575 (1)1609 (1)1671 (1)1803 (1)1817 (1)1833 (1)1848 (1)1869 (1)1874 (1)1879 (1)1880 (1)1881 (1)1886 (1)1888 (1)1896 (1)1900 (1)1903 (1)1904 (1)1906 (1)1909 (1)1912 (1)1922 (1)1929 (1)1932 (1)1933 (1)1934 (1)1935 (1)1936 (1)1937 (1)1938 (2)1943 (1)1950 (1)1951 (1)1952 (1)1954 (1)1956 (1)1957 (1)1960 (1)1961 (1)1963 (1)1964 (3)1965 (4)1966 (1)1969 (3)1970 (2)1971 (2)1972 (3)1973 (2)1974 (1)1975 (4)1976 (1)1977 (4)1979 (2)1980 (1)1981 (2)1982 (1)1985 (1)1986 (2)1987 (1)1988 (1)1989 (1)1991 (3)1993 (2)1998 (1)2000 (1)2002 (1)2003 (1)2007 (1)2013 (1)2014 (1)2015 (1)Treated ByAllAirway Clearance Therapy (1)Bentall Procedure (1)Bisphosphonate Therapy (1)Blalock-Thomas-Taussig Shunt (1)Cell Therapy (1)Chest Physiotherapy (1)Chest Wall Oscillation (1)Craniofacial Surgery (2)Cryoprecipitate Transfusion (1)Distraction Osteogenesis (1)Fetal Surgery (1)Fontan Procedure (1)Fresh Frozen Plasma Transfusion (1)Gene Therapy (1)Glenn Procedure (2)Nebulizer (1)Newborn Screening (1)Norwood Procedure (1)Palliative Care (1)Protein Replacement Therapy (1)Prothrombin Complex Concentrate (1)Smile Surgery (1)Transcatheter Pulmonary Valve Replacement (1)Yasui Procedure (1)DiscovererAllMarco Fraccaro (1)Show ResultsBrowseCompareSelect all 501p36 deletion syndromeRare (Under 1 in 2000)3C syndromeRare (Under 1 in 2000)Aarskog-Scott syndromeRare (Under 1 in 2000)Abruzzo-Erickson syndromeRare (Under 1 in 2000)AchondrogenesisRare (Under 1 in 2000)AchondroplasiaRare (Under 1 in 2000)Acromicric dysplasiaRare (Under 1 in 2000)Adams-Oliver syndromeRare (Under 1 in 2000)ADULT syndromeRare (Under 1 in 2000)Aicardi syndromeRare (Under 1 in 2000)Alagille syndromeRare (Under 1 in 2000)Allan-Herndon-Dudley syndromeRare (Under 1 in 2000)Alopecia contractures dwarfism intellectual disability syndromeRare (Under 1 in 2000)Alport syndromeRare (Under 1 in 2000)Alström syndromeRare (Under 1 in 2000)Amish lethal microcephalyRare (Under 1 in 2000)Andersen-Tawil syndromeRare (Under 1 in 2000)Angelman SyndromeRare (Under 1 in 2000)Apert syndromeRare (Under 1 in 2000)Aplasia cutis congenitaRare (Under 1 in 2000)Arterial tortuosity syndromeRare (Under 1 in 2000)Arthrogryposis-renal dysfunction-cholestasis syndromeRare (Under 1 in 2000)Autosomal dominant multiple pterygium syndromeRare (Under 1 in 2000)Autosomal dominant polycystic kidney diseaseRare (Under 1 in 2000)Bainbridge-Ropers syndromeRare (Under 1 in 2000)Baller-Gerold syndromeRare (Under 1 in 2000)Barakat syndromeRare (Under 1 in 2000)Barber-Say syndromeRare (Under 1 in 2000)Bardet-Biedl syndromeRare (Under 1 in 2000)Berdon syndromeRare (Under 1 in 2000)Björnstad syndromeRare (Under 1 in 2000)Bloom syndromeRare (Under 1 in 2000)Bosch-Boonstra-Schaaf Optic Atrophy SyndromeRare (Under 1 in 2000)Branchio-oculo-facial syndromeRare (Under 1 in 2000)Bruck syndromeRare (Under 1 in 2000)Campomelic dysplasiaRare (Under 1 in 2000)Cantú syndromeRare (Under 1 in 2000)Cardiocranial syndrome, Pfeiffer typeRare (Under 1 in 2000)Cardiofaciocutaneous syndromeRare (Under 1 in 2000)Carpenter syndromeRare (Under 1 in 2000)Caudal regression syndromeRare (Under 1 in 2000)CDAGS SyndromeRare (Under 1 in 2000)CHARGE syndromeRare (Under 1 in 2000)CHILD syndromeRare (Under 1 in 2000)Cleidocranial dysostosisRare (Under 1 in 2000)Cockayne syndromeRare (Under 1 in 2000)Coffin-Lowry syndromeRare (Under 1 in 2000)Coffin-Siris syndromeRare (Under 1 in 2000)Complete androgen insensitivity syndromeRare (Under 1 in 2000)Congenital Diaphragmatic HerniaRare (Under 1 in 2000)Showing 1 to 50 of 192, page 1 of 4.1234Next →Sources1. ICD-10 (Wikipedia)ICD-10 chapter table, Chapter XVII, chapter numberXVII | Q00-Q99 | "Congenital malformations, deformations and chromosomal abnormalities"ICD-10 chapter table, Chapter XVII, code rangeXVII | Q00-Q99 | "Congenital malformations, deformations and chromosomal abnormalities"Comments (0)No comments yet. Be the first to share a thought.Sign in to join the discussion.Reader Challenges (0)No disputes yet. Spotted an error or a better source? Open the first one.Sign in to dispute this or suggest a correction.