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 42Rothmund-Thomson syndromeRare (Under 1 in 2000)Rubinstein-Taybi syndromeRare (Under 1 in 2000)Sack-Barabas syndromeRare (Under 1 in 2000)Saethre-Chotzen syndromeRare (Under 1 in 2000)Schaaf-Yang syndromeRare (Under 1 in 2000)Schimke syndromeRare (Under 1 in 2000)Schwartz-Jampel syndromeRare (Under 1 in 2000)Sensenbrenner syndromeRare (Under 1 in 2000)SHORT syndromeRare (Under 1 in 2000)Shwachman-Diamond syndromeRare (Under 1 in 2000)Silver-Russell syndromeRare (Under 1 in 2000)Simpson-Golabi-Behmel syndromeRare (Under 1 in 2000)SirenomeliaRare (Under 1 in 2000)Situs InversusRare (Under 1 in 2000)Sjögren-Larsson syndromeRare (Under 1 in 2000)Skin fragility-woolly hair-palmoplantar keratoderma syndromeRare (Under 1 in 2000)Smith-Magenis syndromeRare (Under 1 in 2000)Snyder-Robinson syndromeRare (Under 1 in 2000)Sotos syndromeRare (Under 1 in 2000)Stickler syndromeRare (Under 1 in 2000)Sturge-Weber syndromeRare (Under 1 in 2000)Tay-Sachs DiseaseRare (Under 1 in 2000)Tetralogy of FallotRare (Under 1 in 2000)Timothy syndromeRare (Under 1 in 2000)Townes-Brocks syndromeRare (Under 1 in 2000)Treacher Collins SyndromeRare (Under 1 in 2000)Tricho-dento-osseous syndromeRare (Under 1 in 2000)Tricuspid atresiaRare (Under 1 in 2000)Tuberous Sclerosis ComplexRare (Under 1 in 2000)Van der Woude syndromeRare (Under 1 in 2000)Vici syndromeRare (Under 1 in 2000)Von Hippel-Lindau DiseaseRare (Under 1 in 2000)Waardenburg syndromeRare (Under 1 in 2000)Warburg Micro syndromeRare (Under 1 in 2000)Weaver syndromeRare (Under 1 in 2000)Weill-Marchesani syndromeRare (Under 1 in 2000)Wiedemann-Steiner syndromeRare (Under 1 in 2000)Williams SyndromeRare (Under 1 in 2000)Wrinkly skin syndromeRare (Under 1 in 2000)Xeroderma pigmentosumRare (Under 1 in 2000)Yunis-Varon syndromeRare (Under 1 in 2000)ZTTK syndromeRare (Under 1 in 2000)Showing 151 to 192 of 192, page 4 of 4.← Previous1234Sources1. 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.