Home > 2016/17 ICD-10-CM Diagnosis Codes > Congenital malformations, deformations and chromosomal abnormalities Q00-Q99 > Chromosomal abnormalities, not elsewhere classified Q90-Q99 > Monosomies and deletions from the autosomes, not elsewhere classified Q93-
2016/17 ICD-10-CM Diagnosis Code Q93.3
Deletion of short arm of chromosome 4
20162017Billable/Specific CodePOA Exempt
Q93.3 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
This is the American ICD-10-CM version of Q93.3. Other international versions of ICD-10 Q93.3 may differ.
Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes.
A genetic syndrome resulting from a partial deletion on the short arm of chromosome 4 (4p deletion syndrome). It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure with malformations of the spine, hands, and feet, congenital heart defects, and genitourinary malformations.
A syndrome caused by large deletions of the telomereic end of the short arm of chromosome 4 (4p) in wolf-hirchhorn syndrome critial regions (whscrs). Several candidate genes have been identified including whsc1 and whsch2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "greek helmet face" - a combined result of microcephaly, broad forehead, prominent glabella, hypertelorism, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, epilepsy, and frequently a wide range of midline and skeletal defects, including hypospadias; congenital heart defects; cleft lip; cleft palate; colobomata; clubfoot; clinodactyly; scoliosis; and kyphosis.
Partial deletion of the short arm of chromosome 4 with severe psychomotor deficiency and abnormalities of the craniofacial structures, heart, kidneys, and other organs. The most common defects include asymmetric skull, microcephaly, high forehead, beaked nose, hypertelorism, epicanthal folds, and prominent glabella. The phenotype of proximal interstitial deletion (del4p15) differs from that in the wolf-hirschhorn syndrome and is characterized by distinct facies, multiple minor congenital anomalies, psychomotor retardation and normal growth. Deletion 4p15-16 is expressed in a different phenotype which includes long face, midface hypoplasia, upslanted palpebral fissures, epicanthal folds, large beaked nose, highly arched palate, thick lower lip, micrognathia, broad and short neck, broad hands and feet, tall and thin habitus, delayed growth and mental development, and hypotonia.