2024 ICD-10-CM Diagnosis Code Q78.2

Osteopetrosis

ICD-10-CM Code:
Q78.2
ICD-10 Code for:
Osteopetrosis
Is Billable?
Yes - Valid for Submission
Chronic Condition Indicator: [1]
Chronic
Code Navigator:

Code Classification

  • Congenital malformations, deformations and chromosomal abnormalities
    (Q00-Q99)
    • Congenital malformations and deformations of the musculoskeletal system
      (Q65-Q79)
      • Other osteochondrodysplasias
        (Q78)

Q78.2 is a billable diagnosis code used to specify a medical diagnosis of osteopetrosis. The code is valid during the current fiscal year for the submission of HIPAA-covered transactions from October 01, 2023 through September 30, 2024. The code is exempt from present on admission (POA) reporting for inpatient admissions to general acute care hospitals.

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

  • Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
  • Autosomal dominant osteopetrosis type 2
  • Axial osteosclerosis
  • Congenital hypogammaglobulinemia
  • Dentin dysplasia
  • Dentin dysplasia with sclerotic bone syndrome
  • Endosteal hyperostoses
  • Hypogammaglobulinemia
  • Infantile malignant osteopetrosis
  • Infantile osteopetrosis with neuroaxonal dysplasia syndrome
  • Lenz-Majewski hyperostosis syndrome
  • Osteochondrodysplasia with osteopetrosis
  • Osteopathia striata
  • Osteopathia striata with cranial sclerosis
  • Osteopetrosis
  • Osteopetrosis - delayed type
  • Osteopetrosis - intermediate type
  • Osteopetrosis hypogammaglobulinemia syndrome
  • Osteopetrosis with renal tubular acidosis
  • Osteosclerosis
  • Osteosclerosis
  • Osteosclerosis
  • Osteosclerosis - Stanescu type
  • Osteosclerosis, developmental delay, craniosynostosis syndrome
  • Osteosclerotic metaphyseal dysplasia
  • Sclerosteosis
  • Short stature disorder due to osteosclerosis
  • Specific antibody deficiency
  • Transient infantile osteopetrosis
  • Worth disease

Clinical Classification

Clinical Information

  • Osteopetrosis

    excessive formation of dense trabecular bone leading to pathological fractures; osteitis; splenomegaly with infarct; anemia; and extramedullary hemopoiesis (hematopoiesis, extramedullary).
  • Dental Pulp Calcification

    calcinosis of the dental pulp or root canal.
  • Dentin Dysplasia

    an apparently hereditary disorder of dentin formation, marked by a normal appearance of coronal dentin associated with pulpal obliteration, faulty root formation, and a tendency for peripheral lesions without obvious cause. (from dorland, 27th ed)
  • Osteosclerosis

    an abnormal hardening or increased density of bone tissue.
  • Autosomal Dominant Osteopetrosis|Albers-Schonberg Disease|Autosomal Dominant Osteopetrosis Type 2|Benign Osteopetrosis|Marble Bone Disease

    an autosomal dominant form of osteopetrosis due to mutation(s) in the clcn7 gene, encoding h(+)/cl(-) exchange transporter 7. clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. one third of individuals who carry a clcn7 mutation have a normal skeletal phenotype.
  • Autosomal Recessive Osteopetrosis 1|ARO1|Autosomal Recessive Albers-Schonberg Disease|Autosomal Recessive Marble Bones|Autosomal Recessive Osteopetrosis Type 1|Infantile Malignant Osteopetrosis 1|OPTB1

    a sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the tcirg1 gene on chromosome 11q13, encoding the osteoclast-specific (alpha 3) subunit of the vacuolar proton pump. it is characterized by macrocephaly, frontal bossing, nystagmus, optic atrophy, blindness, deafness, and facial palsy.
  • Autosomal Recessive Osteopetrosis 8|OPTB8

    a sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the snx10 gene, encoding sorting nexin-10.
  • Autosomal Recessive Osteopetrosis|Malignant Osteopetrosis

    an autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. this condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. some cases are also associated with progressive neurological deterioration.
  • Osteoclast-Rich Osteopetrosis

    a form of osteopetrosis in which osteoclasts are abundant but have severely impaired resorptive function.
  • Osteopetrosis

    a rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or x-linked recessive pattern. in the majority of cases it is caused by mutations in the clcn7, tcirg1, or ikbkg genes. it is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. it manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis.
  • Osteopetrosis with Renal Tubular Acidosis|Autosomal Recessive Osteopetrosis 3|Autosomal Recessive Osteopetrosis, Type 3|Carbonic Anhydrase II Deficiency|Guibaud-Vainsel Syndrome|Marble Brain Disease|OPTB3

    a rare, autosomal recessive inherited disorder caused by mutation in the ca2 gene. it is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcifications. it results in growth failure, mental retardation, and fractures.
  • Osteosclerosis

    abnormally high bone density.

Tabular List of Diseases and Injuries

The following annotation back-references are applicable to this diagnosis code. The Tabular List of Diseases and Injuries is a list of ICD-10-CM codes, organized "head to toe" into chapters and sections with coding notes and guidance for inclusions, exclusions, descriptions and more.


Inclusion Terms

Inclusion 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 References

The following annotation back-references for this diagnosis code are found in the injuries and diseases index. The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10-CM code(s).

Present on Admission (POA)

Q78.2 is exempt from POA reporting - 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. Review other POA exempt codes here.

CMS POA Indicator Options and Definitions

POA IndicatorReason for CodeCMS will pay the CC/MCC DRG?
YDiagnosis was present at time of inpatient admission.YES
NDiagnosis was not present at time of inpatient admission.NO
UDocumentation insufficient to determine if the condition was present at the time of inpatient admission.NO
WClinically undetermined - unable to clinically determine whether the condition was present at the time of inpatient admission.YES
1Unreported/Not used - Exempt from POA reporting. NO

Convert Q78.2 to ICD-9-CM

  • ICD-9-CM Code: 756.52 - Osteopetrosis

Patient Education


Osteopetrosis

Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. 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 affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. 

In individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, 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.


[Learn More in MedlinePlus]

Osteopetrosis

Osteopetrosis is a rare disorder that causes bones to grow abnormally and become too dense. When this happens, bones can break easily.
[Learn More in MedlinePlus]

Code History

  • FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
  • FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
  • FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
  • FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
  • FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
  • FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
  • FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
  • FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
  • FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.

Footnotes

[1] Chronic - a chronic condition code indicates a condition lasting 12 months or longer and its effect on the patient based on one or both of the following criteria:

  • The condition results in the need for ongoing intervention with medical products,treatment, services, and special equipment
  • The condition places limitations on self-care, independent living, and social interactions.