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  5. Other osteochondrodysplasias (Q78)

Other osteochondrodysplasias (Q78)

The Q78 ICD-10 code section covers a group of rare congenital bone disorders collectively known as other osteochondrodysplasias. These codes identify various inherited or developmental conditions affecting bone and cartilage growth and density, each with unique clinical features and diagnostic criteria.

This section includes disorders such as osteogenesis imperfecta (Q78.0), often referred to by synonyms like "brittle bone disease" or "dentinogenesis imperfecta," used to classify fragile bones with abnormal collagen formation. Polyostotic fibrous dysplasia (Q78.1), linked to conditions like McCune-Albright syndrome and "café au lait spots," involves fibrous tissue replacing normal bone. Osteopetrosis (Q78.2) includes variants known as "marble bone disease," characterized by unusually dense bones prone to fractures. Other codes cover progressive diaphyseal dysplasia (Q78.3), enchondromatosis (Q78.4) also known as Maffucci syndrome, and metaphyseal dysplasia (Q78.5), all affecting various parts of bone structure and growth patterns. The Q78.6 code covers multiple congenital exostoses, identifiable by multiple benign bone growths. Q78.8 is used for other specified osteochondrodysplasias with diverse syndromes, while Q78.9 applies to unspecified forms of osteochondrodysplasia.

Medical coders use these specific ICD-10 codes for accurate classification and reporting of rare skeletal dysplasias, facilitating precise diagnosis, research, and patient management related to these complex bone growth disorders.

Instructional Notations

Type 2 Excludes

A type 2 excludes note represents "Not included here". An excludes2 note indicates that the condition excluded is not part of the condition represented by the code, but a patient may have both conditions at the same time. When an Excludes2 note appears under a code, it is acceptable to use both the code and the excluded code together, when appropriate.

  • congenital myotonic chondrodystrophy G71.13

Clinical Terms

The following clinical terms provide additional context, helping users better understand the clinical background and common associations for each diagnosis listed in this section. Including related terms alongside ICD-10-CM codes supports coders, billers, and healthcare professionals in improving accuracy, enhancing documentation, and facilitating research or patient education.

Anetoderma

Benign DERMATOSIS caused by a loss of dermal ELASTIC TISSUE resulting in localized sac-like areas of flaccid skin. It can be either primary (idiopathic) or secondary to other skin conditions, PENICILLAMINE use, or premature birth.

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)

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.

Enchondromatosis

Benign growths of cartilage in the metaphyses of several bones.

Osteochondrodysplasias

Abnormal development of cartilage and bone.

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.

Osteopetrosis

Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).

Osteopoikilosis

An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)

Osteosclerosis

An abnormal hardening or increased density of bone tissue.