Q78.5
BillableMetaphyseal dysplasia
Metaphyseal dysplasia
Coding Notes
Inclusion Terms
Alternative clinical terms for this condition
- Pyle's syndrome
Excludes 2
Conditions not included here, but the patient may have both
Related Codes(8)
Q78.0Osteogenesis imperfecta
Q78.1Polyostotic fibrous dysplasia
Q78.2Osteopetrosis
Q78.3Progressive diaphyseal dysplasia
Q78.4Enchondromatosis
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(118)
SNOMED CT
- Congenital spherophakia4465002
- Spherophakia4465002
- Cartilage hair syndrome7720002
- Cartilage-hair hypoplasia syndrome7720002
- Metaphyseal chondrodysplasia, McKusick type7720002
- Metaphyseal chondrodysplasia, Jansen type24629003
- Metaphyseal dysostosis, Jansen type24629003
- Congenital maxillary hypoplasia27299009
- Congenital small maxilla27299009
- Maxillary micrognathia27299009
- Maxillary micrognathism27299009
- Micromaxilla27299009
- Pyle disease27837003
- Pyle metaphyseal dysplasia27837003
- Pyle's disease27837003
- Metaphyseal chondrodysplasia28681006
- Metaphyseal dysostosis28681006
- Metaphyseal chondrodysplasia, Schmid type29248006
- Metaphyseal dysplasia, Schmid type29248006
- Congenital small lens35272001
- Microphakia35272001
- Craniometaphyseal dysplasia36601008
- Osteosclerosis49347007
- Kozlowski spondylometaphyseal dysplasia111304003
- Spondylometaphyseal dysplasia Kozlowski type111304003
- Spondylometaphyseal dysplasia - Sutcliffe type254078005
- Spondyloenchondrodysplasia254079002
- Metaphyseal chondrodysplasia, Spahr type254084008
- Craniometaphyseal dysplasia - severe type254134004
- Craniometaphyseal dysplasia - mild type254135003
- Acroscyphodysplasia389162001
- Metaphyseal chondrodysplasia, Sedaghatian type389163006
- Microspherophakia416671000
- Lentiglobus419281007
- Hypoplasia of maxillary bone444967008
- Bowing of upper limb449713008
- IMAGe syndrome702384004
- Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome702384004
- Rosenberg-Lohr syndrome715242008
- Ulna metaphyseal dysplasia syndrome715242008
- Metaphyseal dysplasia Braun Tinschert type717221005
- Microspherophakia with metaphyseal dysplasia syndrome724140002
- Verloes Van Maldergem de Marneffe syndrome724140002
- Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome724145007
- Axial spondylometaphyseal dysplasia771301002
- Autosomal recessive spondylometaphyseal dysplasia Megarbane type782782004
- Spondylometaphyseal dysplasia A4 type782912001
- Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome782913006
- Spondylometaphyseal dysplasia784006008
- Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome1169363004
- Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome1169363004
- Regressive spondylometaphyseal dysplasia1237412001
- Osteosclerotic metaphyseal dysplasia1237513008
- Spondylometaphyseal dysplasia, corneal dystrophy syndrome1269226006
- SBDS ribosome maturation factor-related severe neonatal spondylometaphyseal dysplasia1366184004
- SBDS-related severe neonatal spondylometaphyseal dysplasia1366184004
- Spondylometaphyseal dysplasia Sedaghatian-like type1366184004
Clinical Terms
- SBDS ribosome maturation factor-related severe neonatal spondylometaphyseal dysplasia
- Cartilage-hair hypoplasia syndrome
- Spondylometaphyseal dysplasia Kozlowski type
- Craniometaphyseal dysplasia - mild type
- Maxillary micrognathism
- Spondyloenchondrodysplasia
- Verloes Van Maldergem de Marneffe syndrome
- Osteosclerosis
- Maxillary micrognathia
- Metaphyseal dysplasia Braun Tinschert type
- Rosenberg-Lohr syndrome
- Craniometaphyseal dysplasia
- Acroscyphodysplasia
- Metaphyseal chondrodysplasia, Jansen type
- Metaphyseal dysostosis
- Spondylometaphyseal dysplasia Sedaghatian-like type
- Spondylometaphyseal dysplasia
- Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome
- SBDS-related severe neonatal spondylometaphyseal dysplasia
- Spondylometaphyseal dysplasia - Sutcliffe type
- Microspherophakia with metaphyseal dysplasia syndrome
- Congenital maxillary hypoplasia
- Hypoplasia of maxillary bone
- Spondylometaphyseal dysplasia A4 type
- Micromaxilla
- Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
- Autosomal recessive spondylometaphyseal dysplasia Megarbane type
- Pyle metaphyseal dysplasia
- Kozlowski spondylometaphyseal dysplasia
- Congenital spherophakia
- Bowing of upper limb
- Spherophakia
- Metaphyseal chondrodysplasia, Schmid type
- Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome
- Congenital small lens
- Axial spondylometaphyseal dysplasia
- Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
- IMAGe syndrome
- Spondylometaphyseal dysplasia, corneal dystrophy syndrome
- Craniometaphyseal dysplasia - severe type
- Ulna metaphyseal dysplasia syndrome
- Congenital small maxilla
- Metaphyseal dysplasia, Schmid type
- Cartilage hair syndrome
- Lentiglobus
- Metaphyseal chondrodysplasia
- Metaphyseal chondrodysplasia, Spahr type
- Osteosclerotic metaphyseal dysplasia
- Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
- Microspherophakia
- Pyle disease
- Metaphyseal chondrodysplasia, Sedaghatian type
- Metaphyseal chondrodysplasia, McKusick type
- Pyle's disease
- Regressive spondylometaphyseal dysplasia
- Pyle's syndrome
- Microphakia
- Metaphyseal dysostosis, Jansen type
Frequently Asked Questions
What is the ICD-10 code for metaphyseal dysplasia?
The ICD-10-CM code for metaphyseal dysplasia is Q78.5. The full clinical description is "Metaphyseal dysplasia". Q78.5 is a billable/specific code that can be used on insurance claims and medical billing.
What does ICD-10 code Q78.5 mean?
ICD-10-CM code Q78.5 represents “Metaphyseal dysplasia”. 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 Q78.5 a billable code?
Yes, Q78.5 is a billable/specific ICD-10-CM code and can be used to indicate a diagnosis on a medical claim.
What chapter is Q78.5 in?
Q78.5 is in Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities (codes Q00-Q99).
What SNOMED CT codes does Q78.5 map to?
Q78.5 maps to 37 SNOMED CT concepts: 389162001, 782782004, 771301002, 449713008, 7720002, and 32 more. SNOMED CT is a clinical terminology used in electronic health records.
What are the UMLS CUIs for Q78.5?
Q78.5 is linked to 2 UMLS Concept Unique Identifiers: C5194606, C2910341. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.
How does Q78.5 relate to ICF functioning codes?
ICF (International Classification of Functioning, Disability and Health) codes describe how conditions like metaphyseal dysplasia 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 Q78.5?
Q78.5 maps to the ICD-11 code: LD24.7 (Multiple metaphyseal dysplasias).
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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.