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Resources related to Osteochondrodysplasia
[OCOSH Code: D010009 105985007 Q77 bd_dbd_ocdys]

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Acquired Hyperostosis Syndrome (8)
Syndrome consisting of synovitis, acne, palmoplantar pustulosis, hyperostosis, and osteitis (SAPHO). The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
MeSH Term "Acquired Hyperostosis Syndrome"[mesh]
ICD-10 Code M85.8 Other specified disorders of bone density and structure
SNOMED-CT Term Synovitis acne pustulosis hyperostosis osteomyelitis syndrome (disorder) Concept ID: 60684003 Synonyms - SAPHO Syndrome
Synovitis acne pustulosis hyperostosis osteomyelitis syndrome (disorder)
SAPHO - Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
Synovitis acne pustulosis hyperostosis osteomyelitis syndrome
OCOSH Code: D020083 60684003 M85.8 bd_dbd_ocdys_ahs
Chondrodysplasia Punctata (13)
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
MeSH Term "Chondrodysplasia Punctata"[mesh]
ICD-10 code Q77.3 Chondrodysplasia punctata
SNOMED-CT term Chondrodysplasia punctata (disorder) Concept ID: 205486004
OCOSH Code: D002806 205486004 Q77.3 BD_DBD_OCDYS_CP
Cleidocranial Dysplasia (7)
A rare autosomal dominant condition in which there is defective ossification of the cranial bones with large fontanels and delayed closing of the sutures, complete or partial absence of the clavicles, wide pubic symphysis, short middle phalanges of the fifth fingers, and dental and vertebral anomalies.
MeSH Term "Cleidocranial Dysplasia"[mesh]
ICD-10 Code Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle. (Cleidocranial dysostosis)
SNOMED-CT term Cleidocranial dysostosis (disorder) Concept ID: 65976001
Synonyms - Cleidocranial dysostosis
Cleidocranial dysplasia
Cleidocranial dysostosis (disorder)
CCD - Cleidocranial dysplasia
CLCD - Cleidocranial dysplasia
OCOSH Code: D002973 65976001 Q74.0 BD_DBD_OCDYS_CD
Congenital Cortical Hyperostosis (12)
Synonyms Caffey De Toni Silvermann Syndrome A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation.
MeSH Term "Hyperostosis, Cortical, Congenital"[mesh]
ICD-10 Code M89.8 Other specified disorders of bone (Infantile cortical hyperostoses)
SNOMED-CT Term Infantile cortical hyperostosis (disorder) Concept ID: 24752008
Synonyms - Infantile cortical hyperostosis
Caffey's disease
Infantile cortical hyperostosis (disorder)
Familial infantile cortical hyperostosis
Caffey syndrome
Caffey disease
OCOSH Code: D006958 24752008 M89.8 BD_DBD_OCDYS_CCH
Ellis -van Creveld Syndrome (5)
Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum.
MeSH Term "Ellis-Van Creveld Syndrome"[mesh]
ICD-10 Code Q77.6 Chondroectodermal dysplasia
SNOMED-CT term Chondroectodermal dysplasia (disorder) Concept ID: 62501005
Synonyms - Chondroectodermal dysplasia
Ellis-van Creveld syndrome
Chondroectodermal dysplasia (disorder)
EVC - Ellis-van Creveld syndrome
OCOSH Code: D004613 62501005 Q77.6 BD_DBD_OCDYS_EVC
Enchondromatosis (13)
Benign growths of cartilage in the metaphyses of several bones.
MeSH Term "Enchondromatosis"[mesh]
ICD-10 Code Q78.4 Enchondromatosis
SNOMED-CT term Enchondromatosis (disorder) Concept ID: 268274005
Synonyms - Multiple enchondromata
Congenital enchondromatosis
Ollier disease
Ollier's disease
Enchondromatosis (disorder)
OCOSH Code: D004687 268274005 Q78.4 BD_DBD_OCDYS_EC
Fibrous Dysplasia of Bone (37)
A disease of bone marked by thinning of the cortex and replacement of bone marrow by gritty fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).
MeSH Term "Fibrous Dysplasia of Bone"[mesh]
ICD-10 Code M85 Other disorders of bone density and structure
SNOMED-CT Term Fibrous dysplasia of bone (disorder) Concept ID: 10623005>br>Synonyms - Fibrous dysplasia of bone
Osteitis fibrosa
Fibrous dysplasia of bone (disorder)
OCOSH Code: D005357 10623005 M85 BD_DBD_OCDYS_FD
Langer Giedion Syndrome (5)
Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. Mental retardation and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses
MeSH Term "Langer-Giedion Syndrome"[mesh]
ICD-10 Code Q78.4 Enchondromatosis
SNOMED-CT Term Langer-Giedion syndrome (disorder) Concept ID: 41069008
Acrodysplasia V
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome with Exostoses
Langer-Giedion syndrome
Trichorhinophalangeal syndrome with exostosis
Langer-Giedion syndrome (disorder)
Trichorhinophalangeal syndrome II
TRPS II - Trichorhinophalangeal syndrome II
OCOSH Code: D015826 41069008 Q78.4 BD_DBD_OCDYS_LG
Mucopolysaccharidosis (7)
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
MeSH Term "Mucopolysaccharidoses"[mesh]
ICD-10 Code E76 Disorders of glycosaminoglycan metabolism
SNOMED-CT Term Mucopolysaccharidosis (disorder) Concept ID: 11380006
Synonyms - Mucopolysaccharidosis
MPS - Mucopolysaccharidosis
Mucopolysaccharidosis (disorder)
OCOSH Code: D009083 11380006 E76 BD_DBD_OCDYS_MPS
Osteochondroma (27)
A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors.
MeSH Term "Osteochondroma"[mesh]
ICD-10 Code M9210/0 Osteochondroma (D16.-)
SNOMED-CT Term Osteochondroma of bone (disorder) Concept ID: 307606005
Osteocartilaginous Exostosis
OCOSH Code: D015831 307606005 M9210/0 BD_DBD_OCDYS_OC
Osteogenesis Imperfecta (34)
Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV. Synonyms Fragilitas Ossium Lobstein's Disease Brittle Bones Disease
MeSH Term "Osteogenesis Imperfecta"[MESH]
ICD-10 Code Q78.0
SNOMED-CT Term Osteogenesis imperfecta (disorder) Concept ID: 78314001
Synonyms Osteogenesis imperfecta
Fragilitas ossium
Brittle bone syndrome
Brittle bone disease
OI - Osteogenesis imperfecta
Osteogenesis imperfecta (disorder)
OCOSH Code: D010013 78314001 Q78.0 BD_BDB_OCDYS_OI
Osteosclerosis (54)
An abnormal hardening or increased density of bone tissue.
MeSH Term "Osteosclerosis"[mesh]
ICD-10 Code Q78 Other osteochondrodysplasias
SNOMED-CT term Osteosclerosis (disorder) Concept ID: 49347007
OCOSH Code: D010026 49347007 Q78 BD_DBD_OCDYS_OS
Progressive Diaphyseal Dysplasia (8)
Progressive thickening of diaphyseal cortex of long bones
MeSH Term "Camurati-Engelmann Syndrome"[mesh]
ICD-10 Code Q78.3 Progressive diaphyseal dysplasia
SNOMED-CT term Diaphyseal dysplasia (disorder) Concept ID: 34643004
Engelmann Disease
Diaphyseal dysplasia
Diaphyseal sclerosis
Osteopathia hyperostotica multiplex infantis
Engelmann syndrome
Engelman's disease
Camurati-Engelmann syndrome
Diaphyseal dysplasia (disorder)
OCOSH Code: D003966 34643004 Q78.3 BD_DBD_OCDYS_DD


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Streeter Dysplasia eMedicine Orthopedics

Location: http://www.emedicine.com/orthoped/topic561.htm

Streeter dysplasia is a term used to describe a complex disorder characterized by constricting rings, acrosyndactyly, or, often, amputations of the extremities of neonates. It is analogous to constriction band or amniotic band syndrome (ABS), which was recognized as early as 300 BC. Hippocrates suggested that extrinsic pressures from a...

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Streeters Dysplasia POSNA Study Guide

Location: http://www.posna.org/education/StudyGuide/streetersDysplasia.asp

1. Define Streeter's dysplasia (amniotic band syndrome)
2. Describe the etiology of Streeter's dysplasia
3. Describe the clinical spectrum of Streeter's dysplasia
4. Describe treatment for Streeter's dysplasia

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Technical Challenges of Total Knee Arthroplasty in Skeletal Dysplasia

Location: http://www.springerlink.com/content/m7587365603k64r1/fulltext.html

Questions/purposes We describe special operative considerations that must be made when performing TKA on patients with skeletal dysplasia, including implant selection and ligamentous balancing.
Conclusions Special considerations must be made with regard to implant selection and ligamentous balancing as a result of the unusual anatomy and deformities that accompany...

View Details Visit Resource Review It Rate It Bookmark It Added: Tue Dec 28 2010

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