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 50Kleefstra syndromeRare (Under 1 in 2000)Lamellar ichthyosisRare (Under 1 in 2000)Larsen syndromeRare (Under 1 in 2000)Legius syndromeRare (Under 1 in 2000)Lenz-Majewski syndromeRare (Under 1 in 2000)Malouf syndromeRare (Under 1 in 2000)Mandibulofacial dysostosis-microcephaly syndromeRare (Under 1 in 2000)Marden-Walker syndromeRare (Under 1 in 2000)Marfan SyndromeRare (Under 1 in 2000)Marshall syndromeRare (Under 1 in 2000)McCune-Albright SyndromeRare (Under 1 in 2000)McKusick-Kaufman syndromeRare (Under 1 in 2000)MEDNIK syndromeRare (Under 1 in 2000)Melnick-Needles syndromeRare (Under 1 in 2000)Microphthalmia-dermal aplasia-sclerocornea syndromeRare (Under 1 in 2000)Miller syndromeRare (Under 1 in 2000)Moebius syndromeRare (Under 1 in 2000)MOMO syndromeRare (Under 1 in 2000)Mowat-Wilson syndromeRare (Under 1 in 2000)Muenke syndromeRare (Under 1 in 2000)Mulibrey nanismRare (Under 1 in 2000)Multiple epiphyseal dysplasiaRare (Under 1 in 2000)Myhre syndromeRare (Under 1 in 2000)Nail-patella syndromeRare (Under 1 in 2000)Neurofibromatosis Type 1Rare (Under 1 in 2000)Nicolaides-Baraitser syndromeRare (Under 1 in 2000)Nijmegen breakage syndromeRare (Under 1 in 2000)Noonan SyndromeRare (Under 1 in 2000)Noonan syndrome with multiple lentiginesRare (Under 1 in 2000)OmphaloceleRare (Under 1 in 2000)Osteogenesis ImperfectaRare (Under 1 in 2000)Pallister-Hall syndromeRare (Under 1 in 2000)Pallister-Killian syndromeRare (Under 1 in 2000)Pascual-Castroviejo syndrome type 1Rare (Under 1 in 2000)Perlman syndromeRare (Under 1 in 2000)Persistent truncus arteriosusRare (Under 1 in 2000)Peters-plus syndromeRare (Under 1 in 2000)Pfeiffer syndromeRare (Under 1 in 2000)PhenylketonuriaRare (Under 1 in 2000)Pitt-Hopkins syndromeRare (Under 1 in 2000)Popliteal pterygium syndromeRare (Under 1 in 2000)Prader-Willi SyndromeRare (Under 1 in 2000)Primrose syndromeRare (Under 1 in 2000)ProgeriaRare (Under 1 in 2000)Progressive pseudorheumatoid dysplasiaRare (Under 1 in 2000)Prune belly syndromeRare (Under 1 in 2000)PseudoachondroplasiaRare (Under 1 in 2000)PycnodysostosisRare (Under 1 in 2000)RAPADILINO syndromeRare (Under 1 in 2000)Renal agenesisRare (Under 1 in 2000)Showing 101 to 150 of 192, page 3 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.