2024 ICD-10-CM Diagnosis Code Q78.0

Approximate Synonyms

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

• Abnormal blue sclerae
• Congenital anomaly of sclera
• Congenital anomaly of sclera
• Dentinogenesis imperfecta
• Dentinogenesis imperfecta
• Doughnut lesion of calvaria and bone fragility syndrome
• Ehlers-Danlos and osteogenesis imperfecta syndrome
• Grange syndrome
• Hereditary dysplasia of blood vessel
• High bone mass osteogenesis imperfecta
• Osteogenesis imperfecta
• Osteogenesis imperfecta type 5
• Osteogenesis imperfecta type I
• Osteogenesis imperfecta type I
• Osteogenesis imperfecta type I
• Osteogenesis imperfecta type IIA
• Osteogenesis imperfecta type IIB
• Osteogenesis imperfecta type IIC
• Osteogenesis imperfecta type III
• Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta
• Osteogenesis imperfecta with blue sclerae AND normal teeth
• Osteogenesis imperfecta with normal sclerae, dominant form
• Osteogenesis imperfecta, dominant perinatal lethal
• Osteogenesis imperfecta, perinatal lethal
• Osteogenesis imperfecta, perinatal lethal
• Osteogenesis imperfecta, recessive perinatal lethal
• Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
• Osteogenesis imperfecta, type IV A
• Osteogenesis imperfecta, type IV B
• Osteoporosis with pseudoglioma

Clinical Information

• Osteogenesis Imperfecta

  collagen diseases characterized by brittle, osteoporotic, and easily fractured bones. it may also present with blue sclerae, loose joints, and imperfect dentin formation. most types are autosomal dominant and are associated with mutations in collagen type i.

• Dentinogenesis Imperfecta

  an autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. the dentin develops poorly with low mineral content while the pulp canal is obliterated.

• Dentinogenesis Imperfecta

  a congenital tooth development disorder caused by mutations in the dspp gene. the teeth are weak, discolored, and translucent.

• COL1A2 wt Allele|COL1A2|Collagen Type I Alpha 2 Chain wt Allele|Collagen, Type I, Alpha 2 Gene|OI4|Osteogenesis Imperfecta Type IV Gene

  human col1a2 wild-type allele is located in the vicinity of 7q22.1 and is approximately 37 kb in length. this allele, which encodes collagen alpha-2 (i) chain protein, plays a role in the structural integrity of tendons, ligaments and bones. mutations in the gene are associated with atypical marfan syndrome, ehlers-danlos syndrome types and osteogenesis imperfecta types.

• Osteogenesis Imperfecta Type I

  the mildest and most common type of osteogenesis imperfecta. it is characterized by bone fractures, muscle weakness, and loose joints. bone deformities are either absent or minimal.

• Osteogenesis Imperfecta Type II

  a severe form of osteogenesis imperfecta. it is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities.

• Osteogenesis Imperfecta Type III

  a type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face.

• Osteogenesis Imperfecta Type IV

  a type of osteogenesis imperfecta that is characterized by fractures and hearing loss. it is more severe than type i and less severe than types ii and iii.

Q78.0 is grouped with Diagnostic Related Groups - MS-DRG Mapping

Diagnostic Related Groups (DRGs) are a classification system used to group together diagnosis codes for the purpose of reimbursement and healthcare management. DRGs are used to standardize the way hospitals and other providers are paid for inpatient services. In this system patients are grouped together based on their principal diagnosis in areas referred to as Major Diagnostic Categories (MDC). Once a patient is assigned a particular diagnostic category, providers receive a predetermined payment rate for the services rendered. This reimbursement rate is often fixed and is meant to cover the cost of care for that patient. Reimbursement is also affected by the relative weight of a diagnostic related group based on the severity of a patient's illness and the associated cost of care during hospitalization.

Diagnostic related groups encourage healthcare providers to focus on quality and efficiency in patient care while managing costs effectively. The diagnosis code is present in the following groups for version MS-DRG V41.0 applicable from 10/01/2023 through 09/30/2024.

MS-DRG	MS-DRG Title	MCD	Relative Weight
456	SPINAL FUSION EXCEPT CERVICAL WITH SPINAL CURVATURE, MALIGNANCY, INFECTION OR EXTENSIVE FUSIONS WITH MCC	08	8.4294
457	SPINAL FUSION EXCEPT CERVICAL WITH SPINAL CURVATURE, MALIGNANCY, INFECTION OR EXTENSIVE FUSIONS WITH CC	08	6.0753
458	SPINAL FUSION EXCEPT CERVICAL WITH SPINAL CURVATURE, MALIGNANCY, INFECTION OR EXTENSIVE FUSIONS WITHOUT CC/MCC	08	4.531

The relative weight of a diagnostic related group determines the reimbursement rate based on the severity of a patient's illness and the associated cost of care during hospitalization.

Present on Admission (POA)

Q78.0 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 Indicator	Reason for Code	CMS will pay the CC/MCC DRG?
Y	Diagnosis was present at time of inpatient admission.	YES
N	Diagnosis was not present at time of inpatient admission.	NO
U	Documentation insufficient to determine if the condition was present at the time of inpatient admission.	NO
W	Clinically undetermined - unable to clinically determine whether the condition was present at the time of inpatient admission.	YES
1	Unreported/Not used - Exempt from POA reporting.	NO

Convert Q78.0 to ICD-9-CM

• ICD-9-CM Code: 756.51 - Osteogenesis imperfecta

Patient Education

Dentinogenesis imperfecta

Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.

Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta.

Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta. However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.

[Learn More in MedlinePlus]

Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.

The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.

Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.

[Learn More in MedlinePlus]

Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a disease that causes your bones to break (fracture) 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.