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 50Cornelia de Lange syndromeRare (Under 1 in 2000)Costello syndromeRare (Under 1 in 2000)Cranio-lenticulo-sutural dysplasiaRare (Under 1 in 2000)Craniometaphyseal dysplasiaRare (Under 1 in 2000)CraniorhinyRare (Under 1 in 2000)CraniosynostosisRare (Under 1 in 2000)Craniosynostosis-anal anomalies-porokeratosis syndromeRare (Under 1 in 2000)Crouzon syndromeRare (Under 1 in 2000)Cutis marmorata telangiectatica congenitaRare (Under 1 in 2000)Cystic FibrosisRare (Under 1 in 2000)DiphalliaRare (Under 1 in 2000)Distal trisomy 10qRare (Under 1 in 2000)Donnai-Barrow syndromeRare (Under 1 in 2000)Duane-radial ray syndromeRare (Under 1 in 2000)Dyskeratosis congenitaRare (Under 1 in 2000)Edwards SyndromeRare (Under 1 in 2000)Enamel-renal syndromeRare (Under 1 in 2000)Fetus in fetuRare (Under 1 in 2000)FibrochondrogenesisRare (Under 1 in 2000)Focal facial dermal dysplasiaRare (Under 1 in 2000)Fragile X SyndromeRare (Under 1 in 2000)Frank-Ter Haar syndromeRare (Under 1 in 2000)Frasier syndromeRare (Under 1 in 2000)Freeman-Sheldon syndromeRare (Under 1 in 2000)Galloway-Mowat syndromeRare (Under 1 in 2000)GastroschisisRare (Under 1 in 2000)Genitopatellar syndromeRare (Under 1 in 2000)Greig cephalopolysyndactyly syndromeRare (Under 1 in 2000)Griscelli syndrome type 3Rare (Under 1 in 2000)Hand-foot-genital syndromeRare (Under 1 in 2000)Heimler syndromeRare (Under 1 in 2000)HemophiliaRare (Under 1 in 2000)Hennekam syndromeRare (Under 1 in 2000)Hereditary hemorrhagic telangiectasiaRare (Under 1 in 2000)Holt-Oram syndromeRare (Under 1 in 2000)HypochondroplasiaRare (Under 1 in 2000)Hypohidrotic ectodermal dysplasiaRare (Under 1 in 2000)Hypoplastic left heart syndromeRare (Under 1 in 2000)Hypotrichosis with juvenile macular dystrophyRare (Under 1 in 2000)Ichthyosis prematurity syndromeRare (Under 1 in 2000)Incontinentia pigmentiRare (Under 1 in 2000)Intellectual disability-spasticity-ectrodactyly syndromeRare (Under 1 in 2000)Ischiopatellar dysplasiaRare (Under 1 in 2000)Jacobsen syndromeRare (Under 1 in 2000)Joubert syndromeRare (Under 1 in 2000)Kabuki syndromeRare (Under 1 in 2000)Kagami-Ogata syndromeRare (Under 1 in 2000)KBG syndromeRare (Under 1 in 2000)Kenny-Caffey syndromeRare (Under 1 in 2000)Keutel syndromeRare (Under 1 in 2000)Showing 51 to 100 of 192, page 2 of 4.← Previous1234Next →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.