Q78.2
BillableOsteopetrosis
Osteopetrosis
Coding Notes
Inclusion Terms
Alternative clinical terms for this condition
- Albers-Schönberg syndrome
- Osteosclerosis NOS
Excludes 2
Conditions not included here, but the patient may have both
Related Codes(8)
Q78.0Osteogenesis imperfecta
Q78.1Polyostotic fibrous dysplasia
Q78.3Progressive diaphyseal dysplasia
Q78.4Enchondromatosis
Q78.5Metaphyseal dysplasia
Q78.6Multiple congenital exostoses
Q78.8Other specified osteochondrodysplasias
Q78.9Osteochondrodysplasia, unspecified
ICD-11 Equivalents(1)
ICD-11 Equivalents
View full mappingCorresponding ICD-11 codes from the WHO crosswalk mapping
Also Known As / Clinical Terms(217)
SNOMED CT
- Lenz-Majewski dysplasia1393001
- Lenz-Majewski hyperostosis syndrome1393001
- Osteopetrosis1926006
- Complete deafness8531006
- Sclerosteosis17568006
- Osteosclerosis49347007
- Osteochondrodysplasia with osteopetrosis50108000
- Osteopathia striata82663009
- Voorhoeve's disease82663009
- Congenital deafness95828007
- Dentin dysplasia109492001
- Dentinal dysplasia109492001
- Dentine dysplasia109492001
- Hypogammaglobulinaemia119250001
- Hypogammaglobulinemia119250001
- Osteopetrosis - delayed type205503007
- Osteopetrosis - tarda type205503007
- Functional antibody defect234556002
- Specific antibody deficiency234556002
- Specific immunoglobulin response defect234556002
- Osteopetrosis - intermediate type254121000
- CA2 - Osteopetrosis with renal tubular acidosis254122007
- Carbonic anhydrase II deficiency254122007
- Osteopetrosis with renal tubular acidosis254122007
- Osteosclerosis - Stanescu type254124008
- Axial osteosclerosis254125009
- Osteomesopycnosis254125009
- Osteomesopyknosis254125009
- Osteopathia striata with cranial sclerosis254129003
- Endosteal hyperostoses254130008
- Autosomal dominant osteosclerosis254131007
- Worth disease254131007
- Congenital hypogammaglobulinaemia267460002
- Congenital hypogammaglobulinemia267460002
- Autosomal recessive lethal osteopetrosis367489004
- Autosomal recessive malignant osteopetrosis367489004
- Congenital osteopetrosis367489004
- Infantile malignant osteopetrosis367489004
- Marble bone disease367489004
- Transient infantile osteopetrosis449777000
- Transient osteopetrosis449777000
- Colobomatous microphthalmia715771008
- Microphthalmia with colobomatous cyst715771008
- Microphthalmos co-occurrent with congenital ocular coloboma715771008
- Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome720986005
- Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome720986005
- OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome720986005
- OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema) syndrome720986005
- Osteosclerosis, developmental delay, craniosynostosis syndrome722117000
- Infantile osteopetrosis with neuroaxonal dysplasia724226009
- Infantile osteopetrosis with neuroaxonal dysplasia syndrome724226009
- Albers Schonberg osteopetrosis725050005
- Autosomal dominant osteopetrosis type 2725050005
- Dentin dysplasia with sclerotic bone syndrome770943008
- Dentin dysplasia, sclerotic bones syndrome770943008
- Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia773730002
- Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia773730002
- Autosomal recessive osteopetrosis type 7773730002
- Osteopetrosis hypogammaglobulinaemia syndrome773730002
- Osteopetrosis hypogammaglobulinemia syndrome773730002
- Short stature disorder due to osteosclerosis1153392009
- Osteosclerotic metaphyseal dysplasia1237513008
- Autosomal dominant osteopetrosis type 11264041000
- Pathological fracture of foot due to osteopetrosis1284897006
- COMMAD (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness) syndrome1332382002
- COMMAD syndrome1332382002
- Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome1332382002
- Pathologic fracture of right foot due to osteopetrosis220767211000119104
- Pathological fracture of left foot11309521000119101
- Pathological fracture of left foot due to osteopetrosis712365461000119105
- Pathological fracture of right foot11309481000119101
UMLS
- ALBERS SCHOENBERG DISC0029454
- Albers Schoenberg DiseaseC0029454
- Albers Schoenberg diseaseC0029454
- Albers Schonberg DiseaseC0029454
- Albers Schönberg DiseaseC0029454
- Albers-Schoenberg DiseaseC0029454
- Albers-Schonberg DiseaseC0029454
- Albers-Schonberg diseaseC0029454
- Albers-Schönberg DiseaseC0029454
- Albers-Schönberg syndromeC0029454
- Congenital OsteopetrosisC0029454
- Congenital osteopetrosisC0029454
- Disease, Albers-SchoenbergC0029454
- Disease, Albers-SchonbergC0029454
- Disease, Albers-SchönbergC0029454
- Disease, Marble BoneC0029454
- Harder, denser, fracture-prone bonesC0029454
- MARBLE BONE DISC0029454
- Marble Bone DiseaseC0029454
- Marble bone diseaseC0029454
- OsteopetrosesC0029454
- OsteopetrosisC0029454
- Osteopetrosis (disorder)C0029454
- Osteosclerosis FragilisC0029454
- Osteosclerosis Fragilis GeneralisataC0029454
- Osteosclerosis Fragilis GeneralisatasC0029454
- bone thickeningC0029454
- bones disease marbleC0029454
- bones thickeningC0029454
- congenital osteopetrosisC0029454
- marble boneC0029454
- marble bone diseaseC0029454
- marble bonesC0029454
- osteopetrosesC0029454
- osteopetrosisC0029454
- osteosclerosis fragilisC0029454
- thicken boneC0029454
- Increased bone densityC0029464
- Increased bone mineral densityC0029464
- OsteosclerosesC0029464
- OsteosclerosisC0029464
- Osteosclerosis (disorder)C0029464
- Osteosclerosis NOSC0029464
- Osteosclerosis of bonesC0029464
- osteosclerosisC0029464
Clinical Terms
- Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome
- Pathological fracture of left foot
- Pathological fracture of foot due to osteopetrosis
- Complete deafness
- Increased bone mineral density
- Osteosclerosis
- Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
- Albers Schönberg Disease
- Osteopetrosis - delayed type
- Albers Schonberg osteopetrosis
- Autosomal recessive osteopetrosis type 7
- Infantile osteopetrosis with neuroaxonal dysplasia syndrome
- Functional antibody defect
- Osteopetrosis hypogammaglobulinaemia syndrome
- Autosomal dominant osteosclerosis
- congenital osteopetrosis
- ALBERS SCHOENBERG DIS
- COMMAD (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness) syndrome
- Microphthalmia with colobomatous cyst
- OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema) syndrome
- Axial osteosclerosis
- Osteopetrosis - intermediate type
- Osteosclerosis of bones
- Albers-Schoenberg Disease
- bone thickening
- Transient infantile osteopetrosis
- Osteopathia striata
- Specific antibody deficiency
- Dentin dysplasia
- bones disease marble
- Osteopetrosis hypogammaglobulinemia syndrome
- Albers-Schonberg disease
- Osteosclerosis - Stanescu type
- Osteosclerosis (disorder)
- osteopetroses
- Osteomesopycnosis
- Hypogammaglobulinemia
- Worth disease
- Dentin dysplasia, sclerotic bones syndrome
- Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia
- Harder, denser, fracture-prone bones
- Increased bone density
- Osteopathia striata with cranial sclerosis
- Carbonic anhydrase II deficiency
- Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
- Infantile malignant osteopetrosis
- Albers Schonberg Disease
- Disease, Marble Bone
- Osteosclerosis Fragilis Generalisata
- Autosomal recessive malignant osteopetrosis
- Osteopetrosis with renal tubular acidosis
- Osteosclerosis, developmental delay, craniosynostosis syndrome
- Sclerosteosis
- Endosteal hyperostoses
- Osteomesopyknosis
- Disease, Albers-Schonberg
- Dentine dysplasia
- Marble bone disease
- Autosomal dominant osteopetrosis type 1
- Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
- marble bones
- Pathologic fracture of right foot due to osteopetrosis
- Lenz-Majewski hyperostosis syndrome
- Congenital hypogammaglobulinemia
- Pathological fracture of left foot due to osteopetrosis
- bones thickening
- Lenz-Majewski dysplasia
- Osteosclerosis Fragilis Generalisatas
- Colobomatous microphthalmia
- Pathological fracture of right foot
- MARBLE BONE DIS
- OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome
- Disease, Albers-Schönberg
- Congenital deafness
- Dentin dysplasia with sclerotic bone syndrome
- Osteosclerotic metaphyseal dysplasia
- Albers-Schönberg syndrome
- Dentinal dysplasia
- Albers Schoenberg disease
- Specific immunoglobulin response defect
- Osteopetrosis - tarda type
- thicken bone
- Infantile osteopetrosis with neuroaxonal dysplasia
- Osteosclerosis Fragilis
- CA2 - Osteopetrosis with renal tubular acidosis
- COMMAD syndrome
- Disease, Albers-Schoenberg
- Transient osteopetrosis
- Albers-Schönberg Disease
- Autosomal recessive lethal osteopetrosis
- Microphthalmos co-occurrent with congenital ocular coloboma
- Osteopetrosis (disorder)
- Autosomal dominant osteopetrosis type 2
- Congenital hypogammaglobulinaemia
- Voorhoeve's disease
- Osteoscleroses
- Short stature disorder due to osteosclerosis
- Osteosclerosis NOS
- marble bone
- Osteochondrodysplasia with osteopetrosis
- Hypogammaglobulinaemia
Frequently Asked Questions
What is the ICD-10 code for osteopetrosis?
The ICD-10-CM code for osteopetrosis is Q78.2. The full clinical description is "Osteopetrosis". Q78.2 is a billable/specific code that can be used on insurance claims and medical billing.
What does ICD-10 code Q78.2 mean?
ICD-10-CM code Q78.2 represents “Osteopetrosis”. It is classified under Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities and is a billable/specific code that can be used on a claim.
Is Q78.2 a billable code?
Yes, Q78.2 is a billable/specific ICD-10-CM code and can be used to indicate a diagnosis on a medical claim.
What chapter is Q78.2 in?
Q78.2 is in Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities (codes Q00-Q99).
What SNOMED CT codes does Q78.2 map to?
Q78.2 maps to 38 SNOMED CT concepts: 725050005, 720986005, 1264041000, 254131007, 367489004, and 33 more. SNOMED CT is a clinical terminology used in electronic health records.
What are the UMLS CUIs for Q78.2?
Q78.2 is linked to 2 UMLS Concept Unique Identifiers: C0029454, C0029464. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.
How does Q78.2 relate to ICF functioning codes?
ICF (International Classification of Functioning, Disability and Health) codes describe how conditions like osteopetrosis affect a person's functioning — body functions, activities, participation, and environmental factors. AutoICD provides ICF Core Sets for 12+ conditions and can map clinical text to ICF categories automatically. Browse the ICF directory to explore functioning codes.
What is the ICD-11 equivalent of Q78.2?
Q78.2 maps to the ICD-11 code: LD24.10 (Osteopetrosis).
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Includes SNOMED Clinical Terms® (SNOMED CT®) used by permission of SNOMED International. Includes content from the UMLS Metathesaurus, courtesy of the U.S. National Library of Medicine.