Valid for Submission
E78.72 is a billable diagnosis code used to specify a medical diagnosis of smith-lemli-opitz syndrome. The code E78.72 is valid during the fiscal year 2021 from October 01, 2020 through September 30, 2021 for the submission of HIPAA-covered transactions.
The ICD-10-CM code E78.72 might also be used to specify conditions or terms like disorder of cholesterol metabolism, disorder of cholesterol synthesis, multiple malformation syndrome, moderate short stature, facial or smith-lemli-opitz syndrome.
Index to Diseases and Injuries
The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code(s). The following references for the code E78.72 are found in the index:
- - Disorder (of) - See Also: Disease;
- - Smith-Lemli-Opitz syndrome - E78.72
The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:
- Disorder of cholesterol metabolism
- Disorder of cholesterol synthesis
- Multiple malformation syndrome, moderate short stature, facial
- Smith-Lemli-Opitz syndrome
- 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.
Diagnostic Related Groups - MS-DRG Mapping
Convert E78.72 to ICD-9 Code
The General Equivalency Mapping (GEM) crosswalk indicates an approximate mapping between the ICD-10 code E78.72 its ICD-9 equivalent. The approximate mapping means there is not an exact match between the ICD-10 code and the ICD-9 code and the mapped code is not a precise representation of the original code.
Information for Patients
Lipid Metabolism Disorders
Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.
Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids. Or the enzymes may not work properly and your body can't convert the fats into energy. They cause a harmful amount of lipids to build up in your body. Over time, that can damage your cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, and bone marrow. Many of these disorders can be very serious, or sometimes even fatal.
These disorders are inherited. Newborn babies get screened for some of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.
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. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. 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. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.