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2007 ICD-9-CM Volume 1 Diagnosis Codes Home > Congenital Anomalies 740-759 > Chromosomal Anomalies 758.* > 2007 ICD-9-CM Diagnosis 758.0 Down's syndrome This code may be outdated. View the most recent version of ICD-9-CM 758.0 A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004 A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features. The most frequently occurring mental retardation/multiple anomaly syndrome usually involving more than 100 individual defects. Typical facies with upslanting palpebral fissures is the characteristic feature of this syndrome (hence the offensive designations "mongoloid idiocy" and "mongolism"). A wide range other defects, such as congenital heart diseases, respiratory disorders, and leukemia, may be associated. Down syndrome patients who survive into late adulthood may develop Alzheimer syndrome. 758.0 is a specific code that can be used to specify a diagnosis 758.0 contains 30 index entries View the ICD-9-CM Volume 1 758.* hierarchy 758.0 also known as: Mongolism Translocation Down's syndrome Trisomy: 21 or 22 G Index entries containing 758.0: Abnormal, abnormality, abnormalities - see also Anomaly autosomes NEC 758.5 21 or 22 758.0 G 758.0 Accessory (congenital) autosome(s) NEC 758.5 21 or 22 758.0 chromosome(s) NEC 758.5 21 or 22 758.0 G 758.0 Additional - see also Accessory chromosome(s) 758.5 21 758.0 Anomaly, anomalous (congenital) (unspecified type) 759.9 chromosomes, chromosomal 758.9 21 or 22 758.0 G 758.0 trisomy 21 758.0 Langdon Down (mongolism) 758.0 Disease, diseased - see also Syndrome Down's (mongolism) 758.0 Down's disease or syndrome (mongolism) 758.0 G-trisomy 758.0 Idiot, idiocy (congenital) 318.2 Mongolian 758.0 Langdon Down's syndrome (mongolism) 758.0 Mongolian, mongolianism, mongolism, mongoloid 758.0 spot 757.33 Syndrome - see also Disease Down's (mongolism) 758.0 due to abnormality autosomal NEC (see also Abnormal, autosomes NEC) 758.5 21 or 22 758.0 G 758.0 Langdon Down (mongolism) 758.0 trisomy NEC 758.5 21 or G (mongolism) 758.0 22 or G (mongolism) 758.0 G 758.0 Translocation autosomes NEC 758.5 21 or 22 758.0 G 758.0 Down's syndrome 758.0 Trisomy (syndrome) NEC 758.5 21 (partial) 758.0 22 758.0 G (group) 758.0 group G 758.0