Smith-Lemli-Opitz syndrome. E78.72 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2019 edition of ICD-10-CM E78.72 became effective on October 1, 2018.
E78.72 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2022 edition of ICD-10-CM E78.72 became effective on October 1, 2021.
E78.72 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2020 edition of ICD-10-CM E78.72 became effective on October 1, 2019. This is the American ICD-10-CM version of E78.72 - other international versions of ICD-10 E78.72 may differ.
Smith-Lemli-Opitz syndrome. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple congenital abnormalities, growth deficiency, and intellectual disability.
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems.
SLOS is caused by having a harmful change (mutation) in both copies of the DHCR7 gene. This causes lack of an enzyme (7-dehydrocholesterol reductase) which is needed to make cholesterol. Cholesterol is a waxy substance that is important for making cell structures.
There is no cure for SLOS, but some symptoms can be addressed. The primary treatment is to supplement the patient's diet with large amounts of cholesterol, either in the form of purified cholesterol or in the form of food such as egg yolks and cream. This has been shown to improve symptoms.
Smith–Lemli–Opitz syndrome carrier frequency is highest in Ashkenazi Jews (1 in 43) and Northern Europeans (1 in 54). Comparing predicted birth incidence with that observed in published literature suggests that approximately 42% to 88% of affected conceptuses experience prenatal demise.
The good news is that, if Smith Lemli Opitz syndrome is properly managed and adequate medical care delivered, those with the condition have the potential to have a normal life expectancy. 3 That said, independent living is unlikely due to the severe intellectual disability that often accompanies this syndrome.
In Smith-Lemli-Opitz syndrome (SLOs), 7-dehydrocholesterol (7-DHC) accumulates because there is a block in the pathway for synthesis of cholesterol via 7-DHC. Prenatal diagnosis of SLOs has been achieved by analysis of 7-DHC in amniotic fluid obtained at 16-18 wk from pregnancies at risk.
Fifty years ago, the Smith–Lemli–Opitz Syndrome (SLOS) was described in three male patients by pediatricians David W Smith, Luc Lemli and John Opitz at the University of Wisconsin, USA, for the first time. It was designed as a clinical description of all patients who had microcephaly and hypogenitalism.
States and school districts across the country are embracing Student Learning Objectives (SLOs) as a key component of new teacher and principal evaluation and performance-based compensation systems. Developed by teachers, SLOs are carefully planned goals for what students will learn over a given time period.
The syndrome is so rare that there are only about 60 known cases in the world. Lennon is one the youngest known cases. Life expectancy is unknown. Most BOS children are unable to ever fully develop and live normal lives, whatever normal means.
WHS is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes referred to and written as 4p-.
Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely.
SMITH LEMLI OPITZ SYNDROME-. an autosomal recessive disorder of cholesterol metabolism. it is caused by a deficiency of 7 dehydrocholesterol reductase the enzyme that converts 7 dehydrocholesterol to cholesterol leading to an abnormally low plasma cholesterol. this syndrome is characterized by multiple congenital abnormalities growth deficiency and intellectual disability.
Enzyme replacement therapies can help with a few of these disorders. For others, there is no treatment. Medicines, blood transfusions, and other procedures may help with complications. Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body.
Hyperlipidemia, hyperlipoproteinemia, or hyperlipidaemia (British English) involves abnormally elevated levels of any or all lipids and/or lipoproteins in the blood. It is the most common form of dyslipidemia (which includes any abnormal lipid levels).
DRG Group #564-566 - Other musculoskeletal system and connective tissue diagnoses with MCC.
The ICD-10-CM Alphabetical Index links the below-listed medical terms to the ICD code E78.72. Click on any term below to browse the alphabetical index.
This is the official approximate match mapping between ICD9 and ICD10, as provided by the General Equivalency mapping crosswalk. This means that while there is no exact mapping between this ICD10 code E78.72 and a single ICD9 code, 759.89 is an approximate match for comparison and conversion purposes.