ICD-10 Diagnosis Code E78.72

Smith-Lemli-Opitz syndrome

Diagnosis Code E78.72

ICD-10: E78.72
Short Description: Smith-Lemli-Opitz syndrome
Long Description: Smith-Lemli-Opitz syndrome
This is the 2017 version of the ICD-10-CM diagnosis code E78.72

Valid for Submission
The code E78.72 is valid for submission for HIPAA-covered transactions.

Code Classification
  • Endocrine, nutritional and metabolic diseases (E00–E90)
    • Metabolic disorders (E70-E88)
      • Disorders of lipoprotein metabolism and other lipidemias (E78)

Information for Medical Professionals

Diagnostic Related Groups
The diagnosis code E78.72 is grouped in the following Diagnostic Related Group(s) (MS-DRG v33.0)

  • OTHER MUSCULOSKELETAL SYSTEM AND CONNECTIVE TISSUE DIAGNOSES WITH MCC 564
  • OTHER MUSCULOSKELETAL SYSTEM AND CONNECTIVE TISSUE DIAGNOSES WITH CC 565
  • OTHER MUSCULOSKELETAL SYSTEM AND CONNECTIVE TISSUE DIAGNOSES WITHOUT CC/MCC 566

Convert to ICD-9 Additional informationCallout TooltipGeneral Equivalence Map
The ICD-10 and ICD-9 GEMs are used to facilitate linking between the diagnosis codes in ICD-9-CM and the new ICD-10-CM code set. The GEMs are the raw material from which providers, health information vendors and payers can derive specific applied mappings to meet their needs.

Synonyms
  • Disorder of cholesterol metabolism
  • Disorder of cholesterol synthesis
  • Disorder of lipid metabolism
  • Multiple malformation syndrome, moderate short stature, facial
  • Smith-Lemli-Opitz syndrome

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.


[Read More]

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.
[Read More]
Previous Code
Previous Code E78.71
Next Code
E78.79 Next Code