ICD-10 Diagnosis Code Q78.2


Diagnosis Code Q78.2

ICD-10: Q78.2
Short Description: Osteopetrosis
Long Description: Osteopetrosis
This is the 2017 version of the ICD-10-CM diagnosis code Q78.2

Code Classification
  • Congenital malformations, deformations and chromosomal abnormalities
    • Congenital malformations and deformations of the musculoskeletal system (Q65-Q79)
      • Other osteochondrodysplasias (Q78)

Information for Medical Professionals

Diagnostic Related Groups
The diagnosis code Q78.2 is grouped in the following Diagnostic Related Group(s) (MS-DRG v33.0)


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.

Present on Admission (POA) Additional informationCallout TooltipPresent on Admission
The Present on Admission (POA) indicator is used for diagnosis codes included in claims involving inpatient admissions to general acute care hospitals. POA indicators must be reported to CMS on each claim to facilitate the grouping of diagnoses codes into the proper Diagnostic Related Groups (DRG). CMS publishes a listing of specific diagnosis codes that are exempt from the POA reporting requirement.

The code Q78.2 is exempt from POA reporting.

  • Axial osteosclerosis
  • Benign autosomal dominant osteopetrosis
  • Endosteal hyperostoses
  • Henck-Assman disease
  • Infantile malignant osteopetrosis
  • Lenz-Majewski hyperostosis syndrome
  • Osteochondrodysplasia with osteopetrosis
  • Osteochondrodysplasia with osteopetrosis
  • Osteochondrodysplasia with osteopetrosis
  • Osteochondrodysplasia with osteopetrosis
  • Osteomesopycnosis
  • Osteopathia striata
  • Osteopathia striata with cranial sclerosis
  • Osteopetrosis
  • Osteopetrosis - delayed type
  • Osteopetrosis - intermediate type
  • Osteopetrosis - unclassified
  • Osteopetrosis with renal tubular acidosis
  • Osteosclerosis
  • Osteosclerosis - Stanescu type
  • Sclerosteosis
  • Transient infantile osteopetrosis
  • Worth disease

Index of Diseases and Injuries
References found for the code Q78.2 in the Index of Diseases and Injuries:

Information for Patients

Birth Defects

A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.

A birth defect may affect how the body looks, works or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. To find others, like heart defects, doctors use special tests. Birth defects can vary from mild to severe. Some result from exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome. Infections during pregnancy can also result in birth defects. For most birth defects, the cause is unknown.

Some birth defects can be prevented. Taking folic acid can help prevent some birth defects. Talk to your doctor about any medicines you take. Some medicines can cause serious birth defects.

Babies with birth defects may need surgery or other medical treatments. Today, doctors can diagnose many birth defects in the womb. This enables them to treat or even correct some problems before the baby is born.

Centers for Disease Control and Prevention

  • Intersex

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Osteopetrosis Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In these people, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. In affected individuals who develop signs and symptoms, the major features of the condition include multiple bone fractures, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.Rarely, osteopetrosis can have an X-linked pattern of inheritance. In addition to abnormally dense bones, the X-linked form of the disorder is characterized by abnormal swelling caused by a buildup of fluid (lymphedema) and a condition called anhydrotic ectodermal dysplasia that affects the skin, hair, teeth, and sweat glands. Affected individuals also have a malfunctioning immune system (immunodeficiency), which allows severe, recurrent infections to develop. Researchers often refer to this condition as OL-EDA-ID, an acronym derived from each of the major features of the disorder.
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