Hyperostosis corticalis generalisata
Osteocraniosplenic syndrome
Strudwick syndrome
Lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome
Kenny-Caffey syndrome
Congenital short fibula
QRICH1-related intellectual disability, chondrodysplasia syndrome
Epiphyseal dysplasia
Congenital enchondromatosis
Refractory neutropenia
Dysostosis
Microphthalmia, coloboma, rhizomelic skeletal dysplasia
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
Ververi Brady syndrome
Kniest-Stickler dysplasia
Leucoencephalopathy with metaphyseal chondrodysplasia syndrome
Epilepsy, microcephaly, skeletal dysplasia syndrome
MED7 - multiple epiphyseal dysplasia type 7
Microcephalic osteodysplastic primordial dwarfism Taybi Linder type
NIMA related kinase 9 lethal skeletal dysplasia
Occipital encephalocele
Stenosis of lacrimal canaliculi
Aluminum-related osteopathy
Giant cell chondrodysplasia
Gurrieri Sammito Bellussi syndrome
Disproportionate short stature
Velofacioskeletal syndrome
Craniometadiaphyseal dysplasia
OSTEOPOIKILOSIS
Schimke immunoosseous dysplasia
Metatropic dysplasia
DSS - disproportionate short stature
Desbuquois syndrome
Dysplasia with defective mineralisation
Mixed sclerosing bone dystrophy
Kniest chondrodystrophy
Ollier's disease
LRP5-related primary osteoporosis
Congenital hypoplasia of tibia
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Maroteaux Le-Merrer Bensahel syndrome
Humeroulnar synostosis
Acroosteolysis syndrome
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
Genochondromatosis type 1
Multiple epiphyseal dysplasia with Robin phenotype
MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency
Dyschondroplasia
X-linked osteoporosis with fractures
Endosteal hyperostoses
Mesomelic dwarfism Reinhardt-Pfeiffer type
Disuse osteodystrophy
Pacman dysplasia
Craniometadiaphyseal dysplasia wormian bone type
Aluminum bone disease
Multiple epiphyseal dysplasia
Microcephalic osteodysplastic dysplasia Saul Wilson type
Congenital synspondylism
Lethal Kniest-like syndrome
Familial infantile cortical hyperostosis
Colobomatous microphthalmia, rhizomelic dysplasia syndrome
Progressive pseudorheumatoid dysplasia
Leri's pleonosteosis syndrome
Agenesis of fibula
Autosomal recessive Larsen syndrome
FGFR2-related bent bone dysplasia
Carbohydrate sulfotransferase 3 related skeletal dysplasia
F syndrome
Hajdu-Cheney syndrome
Osteopathia striata, pigmentary dermopathy, white forelock syndrome
Immuno-osseous dysplasia
Cole-Carpenter dysplasia
Congenital hypoplasia of fibula
Liberfarb syndrome
Variation in hair color
Polyepiphyseal dysplasia type 1
Carpotarsal osteochondromatosis
Enchondromatosis
Cole Carpenter syndrome
Terminal osseous dysplasia and pigmentary defect syndrome
Wallis Zieff Goldblatt syndrome
Ollier disease
Roifman-Costa syndrome
Craniometaphyseal dysplasia
Osteofibrous dysplasia
Pfeiffer Kapferer syndrome
Anterior bowing of legs with dwarfism
Aluminum-related fracturing osteodystrophy
Mesomelic dysplasia with absent fibula and triangular tibia
Lethal congenital SLSS (short limb short stature)
Larsen-like syndrome B3GAT3 type
Leontiasis ossea generalisata
Metaphyseal anadysplasia
Epiphyseal dysplasia, microcephalus, nystagmus syndrome
Weismann Netter syndrome
Voorhoeve's disease
Maroteaux-Lamy pyknodysostosis syndrome
Cerebral degeneration in childhood
Pachydermoperiostosis - familial
X-linked calvarial hyperostosis
Endocrine cerebroosteodysplasia syndrome
Kantaputra mesomelic dysplasia
Mesomelic dysplasia with cleft palate and camptodactyly syndrome
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
Mesomelic dysplasia Kantaputra type
Vertebral fusion with carpal coalition
Stuve-Wiedemann dysplasia
Poland anomalad
Hepatic osteodystrophy
Skeletal dysplasia with epilepsy and short stature syndrome
Dysplasia with defective mineralization
Congenital abnormal shape of humerus
Variation in hair colour
Early-onset calcifying leucoencephalopathy, skeletal dysplasia
Idiopathic osteolyses
SHOX (short stature homeobox) related short stature
Rhizomelic dysplasia of Patterson Lowry type
Osteoplastic dysplasia
Otopalatodigital syndrome spectrum disorder
Benign osteogenic neoplasm of bone of limb
Idiopathic hypoparathyroidism
Metatropic dwarfism
Acropectorovertebral dysplasia
Congenital dysplasia of radius
van Buchem's syndrome
Metatropic dwarf
Fibrochondrogenesis
Congenital fused humerus
Spondylometaphyseal dysplasia with severe genu valgum
Symphalangism syndrome
Atelosteogenesis de la Chapelle type
Early-onset calcifying leukoencephalopathy, skeletal dysplasia
Chitty Hall Baraitser syndrome
Multiple epiphyseal dysplasia type 5
RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome
Congenital anomalies of elbow and upper arm
Dysplasia with increased bone density
Spondylocarpotarsal synostosis syndrome
Multiple epiphyseal dysplasia type 4
Congenital abnormal shape of radius
Kniest syndrome
Hyperphosphatasaemia tarda
Pyknoachondrogenesis
Spondyloepimetaphyseal dysplasia, Strudwick type
Bone dysplasia lethal Holmgren type
Body height below reference range
Congenital undergrowth of foot
Congenital misshapen humerus
Epileptic encephalopathy
Spondyloepiphyseal dysplasia with congenital joint dyslocations CHST3 type
Kniest dysplasia
Taybi Linder syndrome
Epiphyseal stippling with osteoclastic hyperplasia syndrome
Multiple epiphyseal dysplasia type 7
Maroteaux Stanescu Cousin syndrome
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia
Cleidorhizomelic syndrome
Kozlowski Tsuruta syndrome
Osteodysplastic primordial dwarfism
Osteosclerotic bone dysplasia
MOPD (microcephalic osteodysplastic primordial dwarfism) type II
Omodysplasia 2
Polyepiphyseal dysplasia type 5
Battaglia Neri syndrome
Familial hypertrophic osteoarthropathy
Maroteaux-Lamy syndrome II
Frontonasal dysplasia sequence
Multiple epiphyseal dysplasia with miniepiphyses
Majewski osteodysplastic primordial dwarfism type II
Mesomelic dysplasia, digital anomalies, intellectual disability syndrome
NEK9-related lethal skeletal dysplasia
Lowry Wood syndrome
Melorheostosis with osteopoikilosis
Autosomal recessive multiple epiphyseal dysplasia
Dysosteosclerosis
Congenital hypoplasia of ulna
Osteoglophonic dwarfism
Lethal osteosclerotic bone dysplasia
Autosomal recessive omodysplasia
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Longitudinal deficiency of foot
Dacryocystitis and osteopoikilosis syndrome
Pseudodiastrophic dysplasia
EDM7 - epiphyseal dysplasia multiple 7
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 (exostosin like glycosyltransferase 3) deficiency
Yunis-Varon dysplasia
Lethal chondrodysplasia with fragmented bone
RHYNS syndrome
Endocrine-cerebro-osteodysplasia syndrome
Cheney syndrome
Angel-shaped phalango-epiphyseal dysplasia
Spondylodysplasia, Luton type
Reinhardt Pfeiffer syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
White forelock
Diaphanospondylodysostosis
Hyperphosphatasemia tarda
Multiple dislocations with dysplasia
Finucane Kurtz Scott syndrome
Atelosteogenesis
Congenital abnormal fusion of humerus
Infantile cortical hyperostosis
Median cleft face syndrome
Rolland-Debuqois syndrome
Spondylodysplasia, San Diego type
Autosomal dominant omodysplasia
Multiple epiphyseal dysplasia Lowry type
Kenny syndrome
Leri pleonosteosis syndrome
Hair discolouration
Canities
Reinhardt Pfeiffer mesomelic dysplasia
Spondylodysplastic group
Geleophysic dysplasia
Pyknodysostosis
Congenital misshapen radius
Hyperphosphatasia tarda
Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome
Congenital hypoplasia of bone of radius and/or ulna
SEMD - spondyloepimetaphyseal dysplasia, Strudwick type
Mixed sclerosing bone dystrophy with extra-skeletal manifestation
EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome
Lethal skeletal dysplasia, foetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome
FMD - Frontometaphyseal dysplasia
Schimke syndrome
Craniofrontonasal dysplasia with Poland anomaly syndrome
Multiple synostosis syndrome
Metatropic dysplasia group
Dyssegmental dysplasia - Rolland-Desbuquois type
Spondyloocular syndrome
Deformity of radius
PLOSL - polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy
Acromesomelic dysplasia Hunter-Thompson type
Omodysplasia 1
Mesomelic dysplasia of upper limb
Metaphyseal chondrodysplasia Kaitila type
Mesomelic dysplasia of hypoplastic ulna and fibula type
Disseminated dermatofibrosis
Short stature homeobox related short stature
Perinatal lethal bent bone dysplasia
Lethal congenital disproportionate short limbed short stature
Kyphomelic dysplasia
Whyte Murphy syndrome
Schimke immuno-osseous dysplasia
PLOSL - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Spondyloenchondrodysplasia with immune dysregulation
Frontometaphyseal dysplasia
Osteopoikilosis (disorder)
Sclerosteosis
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
Melnick-Needles syndrome
MED - Multiple epiphyseal dysplasia
Atelosteogenesis type 2
Osteodysplastic dysplasia, type I
ECO (endocrine-cerebro-osteodysplasia) syndrome
Lenz-Majewski dysplasia
Bowing of upper limb
Rhizomelic syndrome Urbach type
Disorganised development of cartilaginous and fibrous components of the skeleton
Congenital exostosis
Presenile dementia with bone cysts
Whyte Hemingway carpal tarsal phalangeal osteolyses
Familial osteodysplasia Anderson type
Gnathodiaphyseal dysplasia syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Atelosteogenesis type III
Spondylo-ocular syndrome
Atelosteogenesis type I
Giacci familial neurogenic acroosteolysis
Carpal-tarsal osteolysis with nephropathy
Spondyloenchondrodysplasia
Myelodysplastic syndrome with low blasts
Aluminium bone disease
Larsen-like osseous dysplasia, short stature syndrome
Spondylometaphyseal dysplasia Algerian type
Gunal Seber Basaran syndrome
Metachondromatosis
Familial acroosteolysis syndrome
Deafness with epiphyseal dysplasia and short stature syndrome
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
Osteodysplastic dysplasia, type II
Blomstrand dysplasia
Stanesco's dysostosis syndrome
Aluminium-related fracturing osteodystrophy
Autosomal recessive lethal chondrodysplasia round femoral inferior epiphysis type
Van Buchem disease
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome
Beals auriculo-osteodysplasia syndrome
CHST3-related skeletal dysplasia
Spondylometaphyseal dysplasia Schmidt type
Stenosis of lacrimal canaliculus
Rhizomelic shortness with clavicular defect
Mixed sclerosing bone dysplasia
Micromelic dysplasia, dislocation of radius syndrome
Acromesomelic dysplasia Maroteaux type
Desbuquois dysplasia
Caffey syndrome
Syndromic nanophthalmos due to Kenny-Caffey syndrome
Mesomelic dysplasia Thai type
EE - epileptic encephalopathy
Primordial microcephalic dwarfism Crachami type
Boomerang dysplasia
Atelosteogenesis type 1
Dermatofibrosis lenticularis disseminata
Humero-spinal dysostosis
Congenital scoliosis with unilateral unsegmented bar
Fibroblast growth factor receptor 2-related bent bone dysplasia
Chronic deafness
Precocious osteodysplasty
Acroosteolysis
Dysplasias with significant membranous bone involvement
Raine dysplasia
Smith McCort dysplasia
Genochondromatosis type 2
Reardon Hall Slaney syndrome
Aluminium-related osteopathy
Poland anomaly
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
Aplasia of fibula
Congenital short tibia
ECO syndrome
Bone fragility, craniosynostosis, proptosis, hydrocephalus syndrome
Lethal congenital short limb short stature
Osteopathia striata
Swiss cheese cartilage dysplasia
Spondyloepiphyseal dysplasia, Omani type
Dysplastic cortical hyperostosis
Raine syndrome
Metatropic dwarfism syndrome
SHOX-related short stature
Microcephalic osteodysplastic primordial dwarfism types I and III
Congenital absence of pectoral muscle
Endosteal hyperostoses with cerebellar hypoplasia
Fairbanks-Ribbing type epiphyseal dysplasia
Buschke-Ollendorf syndrome
Caffey disease
Gnathodiaphyseal dysplasia
Dappled diaphyseal dysplasia
Disorganized development of cartilaginous and fibrous components of the skeleton
Lethal occipital encephalocele, skeletal dysplasia syndrome
Osteopoikiloses
Complex lethal osteochondrodysplasia Symoens Barnes Gistelinck type
Poland syndrome
MYSM1 deficiency
Gracile bone dysplasia
Buschke-Ollendorff syndrome
Osteocraniostenosis
Velo-facial-skeletal syndrome
Congenital short ulna
Dappled metaphysis syndrome
Low density lipoprotein receptor-related protein 5 related primary osteoporosis
Dysplastic cortical hyperostosis Al-Gazali type
Complex lethal osteochondrodysplasia
Bruck syndrome
Grant syndrome
ASPED - angel-shaped phalango-epiphyseal dysplasia
Spondyloepiphyseal dysplasia with congenital joint dislocations
Hunter-Thompson dysplasia
Lenz-Majewski hyperostosis syndrome
Osteodysplasty
Roifman-Melamed syndrome
Mesomelic dysplasia
Isolated osteopoikilosis
Multiple epiphyseal dysplasia type 1
X-linked dominant chondrodysplasia Chassaing Lacombe type
Melhem Fahl syndrome
Webster Deming syndrome
MSBD (mixed sclerosing bone dystrophy) syndrome
Microcephalic osteodysplastic primordial dwarfism type II
Spondylodysplasia, Torrance type
Hair discoloration
Hereditary acroosteolysis
Multiple enchondromata
Neonatal osteosclerotic dysplasia
Lethal recessive chondrodysplasia
Nasu-Hakola disease
Arthro-dento-osteo dysplasia
OPD (otopalatodigital) spectrum disorder
Atelosteogenesis type 3
Angel-shaped phalangoepiphyseal dysplasia
Omodysplasia
Polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy
Myelodysplastic neoplasm with low blasts
Bent bone dysplasia group
Acrodysostosis
Genochondromatosis
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type
Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
Acrocapitofemoral dysplasia
Stenosis of lacrimal passage
Camera syndrome
Congenital hypoplasia of bone of forearm
Dysplastic cortical hyperostosis Kozlowski Tsuruta type
Geleophysic dwarfism syndrome
Caffey's disease
Osteoglophonic dysplasia
Rhizomelic dysplasia Patterson Lowry type
CANT1-related multiple epiphyseal dysplasia
Dermato-osteopoikilosis
Mesomelic dysplasia Savarirayan type

Frequently Asked Questions

What is the ICD-10 code for other specified osteochondrodysplasias?

The ICD-10-CM code for other specified osteochondrodysplasias is Q78.8. The full clinical description is "Other specified osteochondrodysplasias". Q78.8 is a billable/specific code that can be used on insurance claims and medical billing.

What does ICD-10 code Q78.8 mean?

ICD-10-CM code Q78.8 represents “Other specified osteochondrodysplasias”. 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 Q78.8 a billable code?

Yes, Q78.8 is a billable/specific ICD-10-CM code and can be used to indicate a diagnosis on a medical claim.

What chapter is Q78.8 in?

Q78.8 is in Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities (codes Q00-Q99).

What SNOMED CT codes does Q78.8 map to?

Q78.8 maps to 212 SNOMED CT concepts: 720984008, 720416007, 66758006, 389167007, 718559000, and 207 more. SNOMED CT is a clinical terminology used in electronic health records.

What are the UMLS CUIs for Q78.8?

Q78.8 is linked to 2 UMLS Concept Unique Identifiers: C0029455, C0478078. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.

How does Q78.8 relate to ICF functioning codes?

ICF (International Classification of Functioning, Disability and Health) codes describe how conditions like other specified osteochondrodysplasias 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 Q78.8?

Q78.8 maps to the ICD-11 code: LD24.Z (Syndromes with skeletal anomalies as a major feature, unspecified).

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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.