osteochondrodysplasias

Preferred Label : osteochondrodysplasias;

MeSH definition : Abnormal development of cartilage and bone.;

MeSH synonym : osteochondrodysplasia;

CISMeF synonym : SJA syndromes; buchem disease, van; buchem diseases, van; chondrodystrophic myotonias; chondrodystrophies, myotonic; disease, van buchem; diseases, van buchem; dysplasia, multiple epiphyseal; dysplasias, multiple epiphyseal; dysplasias, spondyloepiphyseal; epiphyseal dysplasia, multiple; epiphyseal dysplasias, multiple; hyperphosphatasemia tardas; multiple epiphyseal dysplasias; myotonias, chondrodystrophic; myotonic chondrodystrophies; sost related sclerosing bone dysplasia; spondylo epimetaphyseal dysplasia with myotonia; spondyloepiphyseal dysplasias; syndrome, Melnick-Needles; syndrome, SJA; syndrome, Schwartz-Jampel; syndromes, SJA; van buchem diseases;

MeSH Hyperonym : dyschondroplasias; Dyschondroplasia;

MeSH hyponym : Melnick-Needles syndrome; hyperostosis corticalis generalisata; spondyloepiphyseal dysplasia; spondyloepiphyseal dysplasia tarda, X-Linked; Melnick Needles Syndrome; Osteodysplasty of Melnick and Needles; Melnick-Needles Osteodysplasty; Melnick Needles Osteodysplasty; Osteodysplasty, Melnick-Needles; Dysplasia, Spondyloepiphyseal; Spondyloepiphyseal Dysplasia Tarda, X Linked; X-Linked Spondyloepiphyseal Dysplasia Tarda; X Linked Spondyloepiphyseal Dysplasia Tarda; X-Linked SEDT; SEDT, X-Linked; X Linked SEDT; SED Tarda; X-Linked SED; SED, X-Linked; X Linked SED; Spondyloepiphyseal Dysplasia, Late; Late Spondyloepiphyseal Dysplasia; Late-Onset Spondyloepiphyseal Dysplasia; Late Onset Spondyloepiphyseal Dysplasia; Spondyloepiphyseal Dysplasia, Late-Onset; Sost Sclerosing Bone Dysplasia; Van Buchem Disease; Sost-Related Sclerosing Bone Dysplasia; Endosteal Hyperostosis, Autosomal Recessive; Hyperphosphatasemia Tarda; Schwartz Jampel Syndrome, Type 1;

Related MeSH term : Myotonic chondrodystrophy; multiple epiphyseal dysplasia; Chondrodystrophy, Myotonic; Schwartz Jampel Aberfeld syndrome; Schwartz-Jampel Syndrome, Type 1; Schwartz Jampel Syndrome, Type 1; Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities; Spondylo-Epimetaphyseal Dysplasia With Myotonia; Chondrodystrophic Myotonia; Myotonia, Chondrodystrophic; SJA Syndrome; Schwartz-Jampel Syndrome; Schwartz Jampel Syndrome; Schwartz-Jampel-Aberfeld Syndrome; Syndrome, Schwartz-Jampel-Aberfeld;

MeSH annotation : abnorm develop of cartilage & bone;

Wikipedia link : https://en.wikipedia.org/wiki/Multiple epiphyseal dysplasia;

Details

Origin ID

D010009;

UMLS CUI

C0029422;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- ACE wt Allele [NCIt concept]
- BPRS-Anchored - Mannerisms and Posturing [NCIt concept]
- Chondrodystrophic myotonia [ICD-11 Subcategory]
- Congenital skeletal dysplasia (disorder) [SNOMED CT concept]
- Des-Gamma Carboxyprothrombin [NCIt concept]
- Dicycloplatin [NCIt concept]
- Division of Cancer Prevention [NCIt concept]
- Dyschondroplasia [ICD-11 More detail]
- Dyschondroplasia [NCIt concept]
- Dyschondroplasia [MedDRA LLT]
- Dysplasia epiphyseal multiple [MedDRA LLT]
- Enchondromatosis [ICD-10 Sub-category (who)]
- Enchondromatosis [NCIt concept]
- Enchondromatosis (disorder) [SNOMED CT concept]
- Enchondromatosis, multiple, ollier type [OMIM Phenotype]
- Endosteal Hyperostosis [NCIt concept]
- Epiphyseal dysplasia, multiple [OMIM phenotypic series]
- Hyperostosis corticalis generalisata [ICD-11 More detail]
- Hyperostosis corticalis generalisata [ORDO Disease]
- Hyperphosphatasemia tarda (disorder) [SNOMED CT concept]
- Melnick Needles osteodysplasia [PASCAL descriptor]
- Melnick-Needles osteodysplasty [ICD-11 More detail]
- Melnick-Needles syndrome [DO Concept]
- Melnick-Needles syndrome [ORDO Disease]
- Melnick-Needles syndrome [MedDRA LLT]
- Melnick-Needles syndrome (disorder) [SNOMED CT concept]
- Melnick-needles syndrome [OMIM Phenotype]
- Morquio syndrome (disorder) [SNOMED CT concept]
- Multiple epiphyseal dysplasia [ICD-9 code]
- Multiple epiphyseal dysplasia [ACR pathology]
- Multiple epiphyseal dysplasia [HPO term]
- Multiple epiphyseal dysplasia [MedDRA Preferred Term]
- Multiple epiphyseal dysplasia [ORDO Disease]
- Multiple epiphyseal dysplasia (disorder) [SNOMED CT concept]
- Multiple epiphyseal dysplasias [ICD-11 Sub-sub category]
- Myotonic chondrodystrophy [MedDRA LLT]
- Myotonic chondrodystrophy [ICD-9 code]
- Myotonic chondrodystrophy [ICD-11 More detail]
- Myotonic disorders [ICD-10 Sub-category]
- Myotonic disorders [ICD-10 Sub-category (who)]
- Ollier disease [ORDO Disease]
- Ollier disease [DO Concept]
- Osteochondrodysplasia [MedDRA Preferred Term]
- Other osteochondrodysplasias [ICD-10 category (who)]
- Paraneoplastic neurologic syndrome [ORDO Disease]
- Primary ciliary dyskinesia [ORDO Disease]
- Protein Induced by Vitamin K Absence-II Measurement [NCIt concept]
- SOST-related sclerosing bone dysplasia [DO Concept]
- Schwartz Jampel syndrome [MedDRA Preferred Term]
- Schwartz-Jampel Syndrome [NCIt concept]
- Schwartz-Jampel dwarfism [PASCAL descriptor]
- Schwartz-Jampel syndrome [ORDO Disease]
- Schwartz-Jampel syndrome (disorder) [SNOMED CT concept]
- Schwartz-Jampel syndrome 1 [DO Concept]
- Schwartz-jampel syndrome, type 1 [OMIM Phenotype]
- Spondyloepiphyseal dysplasia [PASCAL descriptor]
- Spondyloepiphyseal dysplasia [ICD-10 Sub-category]
- Spondyloepiphyseal dysplasia [ICD-10 Sub-category (who)]
- Spondyloepiphyseal dysplasia [HPO term]
- Spondyloepiphyseal dysplasia [MedDRA Preferred Term]
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [ORDO Disease]
- Spondyloepiphyseal dysplasia congenita [MedDRA LLT]
- Spondyloepiphyseal dysplasia congenita [ORDO Disease]
- Spondyloepiphyseal dysplasia congenita [OMIM Phenotype]
- Spondyloepiphyseal dysplasia congenita (disorder) [Inactive SNOMED CT concept]
- Spondyloepiphyseal dysplasia congenita group (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia tarda [ACR pathology]
- Spondyloepiphyseal dysplasia tarda [ACR pathology]
- Spondyloepiphyseal dysplasia tarda [HPO term]
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
- Spondyloepiphyseal dysplasia tarda (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia tarda, X-linked [OMIM Phenotype]
- Spondyloepiphyseal dysplasia, other [ACR pathology]
- Spondyloepiphyseal dysplasia, other [ACR pathology]
- Van buchem disease [OMIM Phenotype]
- Worth disease (disorder) [SNOMED CT concept]
- X-linked spondyloepiphyseal dysplasia tarda [MedDRA LLT]
- X-linked spondyloepiphyseal dysplasia tarda [DO Concept]
- hyperphosphatasemia tarda [SNOMED Notion]
- melnick-needles syndrome [SNOMED Notion]
- multiple epiphyseal dysplasia [DO Concept]
- multiple epiphyseal dysplasia [SNOMED Notion]
- osteochondromatosis syndrome [SNOMED Notion]
- paroxysmal pain in patient with cancer pain [Indication]
- schwartz-jampel syndrome [SNOMED Notion]
- spondyloepiphyseal dysplasia congenita [DO Concept]
- spondyloepiphyseal dysplasia tarda [SNOMED Notion]
- spondyloepiphyseal dysplasia with congenital joint dislocations [DO Concept]
Currated CISMeF NLP mapping
- Osteochondrodysplasia [PASCAL descriptor]
- Osteochondrodysplasia [NCIt concept]
- Osteochondrodysplasia (disorder) [Inactive SNOMED CT concept]
- Osteochondrodysplasia syndrome (disorder) [SNOMED CT concept]
- Osteochondrodysplasia, unspecified [ICD-10 Sub-category (who)]
- Osteochondrodysplasia, unspecified [ICD-10 Sub-category]
- osteochondrodysplasia [DO Concept]
- osteochondrodysplasia [Disease (Nov.)]
DO Cross reference
- Melnick-Needles syndrome [DO Concept]
- multiple epiphyseal dysplasia [DO Concept]
- osteochondrodysplasia [DO Concept]
HPO term
- Multiple epiphyseal dysplasia [HPO term]
- Skeletal dysplasia [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
Manual NTBT mappings (CISMeF)
- Bone disease with increased bone density and metaphyseal or diaphyseal involvement [ORDO Disease]
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Filamin-related bone disorder [ORDO Disease]
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis [ORDO Disease]
- Multiple epiphyseal dysplasia and pseudoachondroplasia [ORDO Disease]
- Multiple epiphyseal dysplasia due to collagen 9 anomaly [ORDO Disease]
- Multiple epiphyseal dysplasia type 1 [ORDO Disease]
- Multiple epiphyseal dysplasia type 4 [ORDO Disease]
- Multiple epiphyseal dysplasia type 5 [ORDO Disease]
- Multiple epiphyseal dysplasia, Al-Gazali type [ORDO Disease]
- Multiple epiphyseal dysplasia, Beighton type [ORDO Disease]
- Multiple epiphyseal dysplasia, Lowry type [ORDO Disease]
- Multiple epiphyseal dysplasia, unclassified type [ORDO Disease]
- Multiple epiphyseal dysplasia, with miniepiphyses [ORDO Disease]
- Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia [ORDO Disease]
- Non-chondrodysplastic malformation syndrome affecting bones [ORDO Disease]
- Perlecan-related bone disorder [ORDO Disease]
- Progressive muscular dystrophy [ORDO Disease]
- Qualitative or quantitative defects of perlecan [ORDO Disease]
- Rare bone disease [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Rare genetic bone disease [ORDO Disease]
- Spondylodysplastic dysplasia [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, PAPSS2 type [ORDO Disease]
- Spondyloepiphyseal dysplasia tarda, Kohn type [ORDO Disease]
- Spondyloepiphyseal dysplasia, Byers type [ORDO Disease]
- Spondyloepiphyseal dysplasia, Kimberley type [ORDO Disease]
- Spondyloepiphyseal dysplasia, MacDermot type [ORDO Disease]
- Spondyloepiphyseal dysplasia, Omani type [ORDO Disease]
- Spondyloepiphyseal dysplasia, Reardon type [ORDO Disease]
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome [ORDO Disease]
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome [ORDO Disease]
- Syndromic corneal dystrophy [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic myopia [ORDO Disease]
- Type 2 collagen-related bone disorder [ORDO Disease]
- Wolcott-Rallison syndrome [ORDO Disease]
- X-linked syndromic intellectual disability [ORDO Disease]
Record concept(s)
- Melnick-Needles syndrome [MeSH concept]
- Myotonic chondrodystrophy [MeSH concept]
- Schwartz-Jampel Syndrome, Type 1 [MeSH concept]
- dyschondroplasias [MeSH concept]
- hyperostosis corticalis generalisata [MeSH concept]
- multiple epiphyseal dysplasia [MeSH concept]
- osteochondrodysplasias [MeSH concept]
- spondyloepiphyseal dysplasia [MeSH concept]
- spondyloepiphyseal dysplasia tarda, X-Linked [MeSH concept]
Related MeSH Supplementary Concept(s)
- CODAS syndrome [MeSH Supplementary Concept]
- Dyggve-Melchior-Clausen syndrome [MeSH Supplementary Concept]
- Faye-Petersen ward carey syndrome [MeSH Supplementary Concept]
- HEM dysplasia [MeSH Supplementary Concept]
- Kniest-Like dysplasia with pursed lips and ectopia lentis [MeSH Supplementary Concept]
- Larsen-Like syndrome [MeSH Supplementary Concept]
- Leri-Weil syndrome [MeSH Supplementary Concept]
- Microcephaly-Micromelia syndrome [MeSH Supplementary Concept]
- Oto-Palato-digital syndrome type 1 [MeSH Supplementary Concept]
- Pelvis-Shoulder dysplasia [MeSH Supplementary Concept]
- Skeletal dysplasia coarse facies mental retardation [MeSH Supplementary Concept]
- Smith-McCort dysplasia [MeSH Supplementary Concept]
- Spondylo-Megaepiphyseal-Metaphyseal dysplasia [MeSH Supplementary Concept]
- Stuve-Wiedemann syndrome [MeSH Supplementary Concept]
- Wolcott-Rallison syndrome [MeSH Supplementary Concept]
- achondrogenesis [MeSH Supplementary Concept]
- acrodysostosis [MeSH Supplementary Concept]
- acrodysplasia scoliosis [MeSH Supplementary Concept]
- acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia [MeSH Supplementary Concept]
- acromesomelic dysplasia [MeSH Supplementary Concept]
- acromesomelic dysplasia Campailla-Martinelli type [MeSH Supplementary Concept]
- acropectorovertebral dysplasia, F-Form [MeSH Supplementary Concept]
- akaba hayasaka syndrome [MeSH Supplementary Concept]
- anauxetic dysplasia [MeSH Supplementary Concept]
- atelosteogenesis type 2 [MeSH Supplementary Concept]
- atelosteogenesis type 3 [MeSH Supplementary Concept]
- atelosteogenesis, type 1 [MeSH Supplementary Concept]
- auriculoosteodysplasia [MeSH Supplementary Concept]
- boomerang dysplasia [MeSH Supplementary Concept]
- brachyolmia [MeSH Supplementary Concept]
- brachyolmia type 2 [MeSH Supplementary Concept]
- brachyolmia type 3 [MeSH Supplementary Concept]
- brachyolmia, recessive hobaek type [MeSH Supplementary Concept]
- cantu syndrome [MeSH Supplementary Concept]
- cartilage hair hypoplasia like syndrome [MeSH Supplementary Concept]
- cartilage-hair hypoplasia [MeSH Supplementary Concept]
- chondrodysplasia calcificans metaphysealis [MeSH Supplementary Concept]
- chondrodysplasia, Megarbane-Dagher-Melki type [MeSH Supplementary Concept]
- chondrodysplasia, blomstrand type [MeSH Supplementary Concept]
- chondrodysplasia, grebe type [MeSH Supplementary Concept]
- chondrodysplasia, lethal, with long bone angulation and mixed bone density [MeSH Supplementary Concept]
- cleidorhizomelic syndrome [MeSH Supplementary Concept]
- cloverleaf skull micromelia thoracic dysplasia [MeSH Supplementary Concept]
- collagenopathy, type 2 alpha 1 [MeSH Supplementary Concept]
- coloboma of alar-nasal cartilages with telecanthus [MeSH Supplementary Concept]
- combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia [MeSH Supplementary Concept]
- craniodiaphyseal dysplasia [MeSH Supplementary Concept]
- craniodiaphyseal dysplasia, autosomal dominant [MeSH Supplementary Concept]
- czech dysplasia, metatarsal type [MeSH Supplementary Concept]
- dyschondrosteosis and nephritis [MeSH Supplementary Concept]
- eiken skeletal dysplasia [MeSH Supplementary Concept]
- epiphyseal dysplasia of femoral head, myopia, and deafness [MeSH Supplementary Concept]
- epiphyseal dysplasia, baumann type [MeSH Supplementary Concept]
- epiphyseal dysplasia, multiple, 1 [MeSH Supplementary Concept]
- epiphyseal dysplasia, multiple, 2 [MeSH Supplementary Concept]
- epiphyseal dysplasia, multiple, 3 [MeSH Supplementary Concept]
- epiphyseal dysplasia, multiple, 4 [MeSH Supplementary Concept]
- epiphyseal dysplasia, multiple, 5 [MeSH Supplementary Concept]
- epiphyseal dysplasia, multiple, with miniepiphyses [MeSH Supplementary Concept]
- epiphyseal dysplasia, multiple, with myopathy [MeSH Supplementary Concept]
- epiphyseal dysplasia, multiple, with myopia and conductive deafness [MeSH Supplementary Concept]
- epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia [MeSH Supplementary Concept]
- fairbank disease [MeSH Supplementary Concept]
- fraser jequier chen syndrome [MeSH Supplementary Concept]
- frontometaphyseal dysplasia [MeSH Supplementary Concept]
- frontootopalatodigital osteodysplasia [MeSH Supplementary Concept]
- ghosal hematodiaphyseal dysplasia [MeSH Supplementary Concept]
- heterotopia, periventricular nodular, with frontometaphyseal dysplasia [MeSH Supplementary Concept]
- hip dysplasia, beukes type [MeSH Supplementary Concept]
- hypochondrogenesis [MeSH Supplementary Concept]
- hypoparathyroidism-retardation-dysmorphism syndrome [MeSH Supplementary Concept]
- intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [MeSH Supplementary Concept]
- jansen type metaphyseal chondrodysplasia [MeSH Supplementary Concept]
- jequier kozlowski skeletal dysplasia [MeSH Supplementary Concept]
- kniest dysplasia [MeSH Supplementary Concept]
- kozlowski tsuruta taki syndrome [MeSH Supplementary Concept]
- langer mesomelic dysplasia [MeSH Supplementary Concept]
- laplane fontaine lagardere syndrome [MeSH Supplementary Concept]
- larsen syndrome [MeSH Supplementary Concept]
- larsen syndrome, dominant type [MeSH Supplementary Concept]
- lowry wood syndrome [MeSH Supplementary Concept]
- macrocephaly with multiple epiphyseal dysplasia and distinctive facies [MeSH Supplementary Concept]
- madelung deformity [MeSH Supplementary Concept]
- marshall syndrome [MeSH Supplementary Concept]
- megaepiphyseal dwarfism [MeSH Supplementary Concept]
- mental retardation, skeletal dysplasia, and abducens palsy [MeSH Supplementary Concept]
- mesomelic dwarfism of hypoplastic tibia and radius type [MeSH Supplementary Concept]
- mesomelic dwarfism reinhardt pfeiffer type [MeSH Supplementary Concept]
- mesomelic dysplasia, savarirayan type [MeSH Supplementary Concept]
- metaphyseal anadysplasia [MeSH Supplementary Concept]
- metaphyseal anadysplasia 1 [MeSH Supplementary Concept]
- metaphyseal anadysplasia 2 [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia schmid type [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia spahr type [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia with retinitis pigmentosa [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, kaitila type [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, pena type [MeSH Supplementary Concept]
- metaphyseal dysplasia with maxillary hypoplasia and brachydactyly [MeSH Supplementary Concept]
- metaphyseal dysplasia without hypotrichosis [MeSH Supplementary Concept]
- metaphyseal dysplasia, Braun-Tinschert type [MeSH Supplementary Concept]
- metaphyseal dysplasia, anetoderma, and optic atrophy [MeSH Supplementary Concept]
- metaphyseal undermodeling, spondylar dysplasia, and overgrowth [MeSH Supplementary Concept]
- metatropic dwarfism [MeSH Supplementary Concept]
- metatropic dwarfism, type II [MeSH Supplementary Concept]
- microcephalic osteodysplastic primordial dwarfism, type 1 [MeSH Supplementary Concept]
- microcephalic osteodysplastic primordial dwarfism, type II [MeSH Supplementary Concept]
- micromelic dwarfism fryns type [MeSH Supplementary Concept]
- micromelic dysplasia, congenital, with dislocation of radius [MeSH Supplementary Concept]
- multiple congenital anomalies syndrome with cloverleaf skull [MeSH Supplementary Concept]
- multiple epiphyseal dysplasia with robin phenotype [MeSH Supplementary Concept]
- nievergelt syndrome [MeSH Supplementary Concept]
- nivelon nivelon mabille syndrome [MeSH Supplementary Concept]
- omodysplasia 2 [MeSH Supplementary Concept]
- omodysplasia type 1 [MeSH Supplementary Concept]
- opsismodysplasia [MeSH Supplementary Concept]
- osebold skeletal dysplasia osteolysis syndrome [MeSH Supplementary Concept]
- osteoarthritis with mild chondrodysplasia [MeSH Supplementary Concept]
- osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension [MeSH Supplementary Concept]
- osteodysplasia, familial, anderson type [MeSH Supplementary Concept]
- osteodysplasty, precocious, of danks, mayne, and kozlowski [MeSH Supplementary Concept]
- osteoglophonic dwarfism [MeSH Supplementary Concept]
- oto-palato-digital syndrome, type 2 [MeSH Supplementary Concept]
- otopalatodigital spectrum disorder [MeSH Supplementary Concept]
- pierre robin syndrome with fetal chondrodysplasia [MeSH Supplementary Concept]
- polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MeSH Supplementary Concept]
- polydysspondyly [MeSH Supplementary Concept]
- pubic bone dysplasia [MeSH Supplementary Concept]
- pyle disease [MeSH Supplementary Concept]
- roifman syndrome [MeSH Supplementary Concept]
- schaefer stein oshman syndrome [MeSH Supplementary Concept]
- schimke immunoosseous dysplasia [MeSH Supplementary Concept]
- schneckenbecken dysplasia [MeSH Supplementary Concept]
- short stature syndrome, brussels type [MeSH Supplementary Concept]
- situs inversus totalis with cystic dysplasia of kidneys and pancreas [MeSH Supplementary Concept]
- spinal dysplasia, anhalt type [MeSH Supplementary Concept]
- spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like [MeSH Supplementary Concept]
- spondylodysplasia and premature pubarche [MeSH Supplementary Concept]
- spondyloenchondrodysplasia [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia with abnormal dentition [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia with hypotrichosis [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia with joint laxity [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia with multiple dislocations [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, Matrilin-3 related [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, genevieve type [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, irapa type [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, missouri type [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, pakistani type [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, shohat type [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, sponastrime type [MeSH Supplementary Concept]
- spondyloepiphyseal Dysplasia-Brachydactyly and distinctive speech [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda with characteristic facies [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda with mental retardation [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda, autosomal dominant [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda, autosomal recessive [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda, toledo type [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia with atlantoaxial instability [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia with punctate corneal dystrophy [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia, congenita [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia, kimberley type [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia, myopia, and sensorineural deafness [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia, omani type [MeSH Supplementary Concept]
- spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness [MeSH Supplementary Concept]
- spondylometaepiphyseal dysplasia, short Limb-Hand type [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia with Cone-Rod dystrophy [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia with dentinogenesis imperfecta [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia, 'corner fracture' type [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia, X-Linked [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia, algerian type [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia, axial [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia, east-African type [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia, kozlowski type [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia, sedaghatian type [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia, type A4 [MeSH Supplementary Concept]
- spondyloocular syndrome, autosomal recessive [MeSH Supplementary Concept]
- spondyloperipheral dysplasia short ulna [MeSH Supplementary Concept]
- spondylospinal thoracic dysostosis [MeSH Supplementary Concept]
- strudwick syndrome [MeSH Supplementary Concept]
- teebi naguib al awadi syndrome [MeSH Supplementary Concept]
- ter haar syndrome [MeSH Supplementary Concept]
- terminal osseous dysplasia and pigmentary defects [MeSH Supplementary Concept]
- thoracolaryngopelvic dysplasia [MeSH Supplementary Concept]
- tracheobronchopathia osteoplastica [MeSH Supplementary Concept]
- trichoscyphodysplasia [MeSH Supplementary Concept]
- ulna metaphyseal dysplasia syndrome [MeSH Supplementary Concept]
- upington disease [MeSH Supplementary Concept]
- van buchem disease type 2 [MeSH Supplementary Concept]
- verloes bourguignon syndrome [MeSH Supplementary Concept]
- verloes van maldergem marneffe syndrome [MeSH Supplementary Concept]
- vitreoretinopathy with phalangeal epiphyseal dysplasia [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Multiple epiphyseal dysplasia [HPO term]
- multiple epiphyseal dysplasia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteochondrodysplasia [PASCAL descriptor]
- Osteochondrodysplasia [NCIt concept]
- Osteochondrodysplasia (disorder) [Inactive SNOMED CT concept]
- Osteochondrodysplasia syndrome (disorder) [SNOMED CT concept]
- Osteochondrodysplasia, unspecified [ICD-10 Sub-category]
- Osteochondrodysplasia, unspecified [ICD-10 Sub-category (who)]
- Skeletal dysplasia [HPO term]
- osteochondrodysplasia [DO Concept]
- osteochondrodysplasia [Disease (Nov.)]
Validated automatic mappings to BTNT
- Congenital spondyloepiphyseal dysplasia [ICD-11 More detail]
- Melnick Needles syndrome [Disease (Nov.)]
- Spondyloepiphyseal dysplasia tarda, X-linked [ICD-11 More detail]
- chondrodystrophic myotonia [Disease (Nov.)]
- hyperostosis corticalis generalisata [Disease (Nov.)]
- spondyloepiphyseal dysplasia tarda [Disease (Nov.)]

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