Valid for Submission
Q78.2 is a billable diagnosis code used to specify a medical diagnosis of osteopetrosis. The code Q78.2 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 Q78.2 might also be used to specify conditions or terms like abnormal gamma globulin level, agenesis of corpus callosum, anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome, autosomal dominant osteopetrosis type 2, axial osteosclerosis , benign autosomal dominant osteopetrosis, etc. The code is exempt from present on admission (POA) reporting for inpatient admissions to general acute care hospitals.
Tabular List of Diseases and Injuries
The Tabular List of Diseases and Injuries is a list of ICD-10 codes, organized "head to toe" into chapters and sections with guidance for inclusions, exclusions, descriptions and more. The following references are applicable to the code Q78.2:
Inclusion TermsInclusion Terms
These terms are the conditions for which that code is to be used. The terms may be synonyms of the code title, or, in the case of "other specified" codes, the terms are a list of the various conditions assigned to that code. The inclusion terms are not necessarily exhaustive. Additional terms found only in the Alphabetic Index may also be assigned to a code.
- Albers-Schönberg syndrome
- Osteosclerosis NOS
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 Q78.2 are found in the index:
- - Albers-Schönberg syndrome - Q78.2
- - Ivory bones - Q78.2
- - Osteopetrosis (familial) - Q78.2
The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:
- Abnormal gamma globulin level
- Agenesis of corpus callosum
- Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
- Autosomal dominant osteopetrosis type 2
- Axial osteosclerosis
- Benign autosomal dominant osteopetrosis
- Dentin dysplasia
- Dentin dysplasia with sclerotic bone syndrome
- Endosteal hyperostoses
- Infantile malignant osteopetrosis
- Infantile osteopetrosis with neuroaxonal dysplasia syndrome
- Lenz-Majewski hyperostosis syndrome
- Osteochondrodysplasia with osteopetrosis
- Osteopathia striata
- Osteopathia striata with cranial sclerosis
- Osteopetrosis - delayed type
- Osteopetrosis - intermediate type
- Osteopetrosis hypogammaglobulinemia syndrome
- Osteopetrosis with renal tubular acidosis
- Osteosclerosis - Stanescu type
- Osteosclerosis, developmental delay, craniosynostosis syndrome
- Specific antibody deficiency
- Transient infantile osteopetrosis
- Worth disease
- OSTEOPETROSIS-. excessive formation of dense trabecular bone leading to pathological fractures; osteitis; splenomegaly with infarct; anemia; and extramedullary hemopoiesis hematopoiesis extramedullary.
Diagnostic Related Groups - MS-DRG Mapping
Present on Admission (POA)
Convert Q78.2 to ICD-9 Code
Information for Patients
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 range from mild to severe. Causes can include
- Exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome.
- Infections during pregnancy
- Certain medicines. Before you get pregnant, talk to your health care provider about any medicines you take.
- Not getting enough of certain nutrients. For example, not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects.
For most birth defects, the cause is unknown.
Health care providers can diagnose certain birth defects during pregnancy, with prenatal tests. That's why it important to get regular prenatal care. Other birth defects may not be found until after the baby is born. Sometimes the defect is obvious right away. Other times, the health care provider may not discover it until later in life.
Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies.
Centers for Disease Control and Prevention
- Intersex (Medical Encyclopedia)
[Learn More in MedlinePlus]
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.
[Learn More in MedlinePlus]