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363212003: Hereditary disorder of musculoskeletal system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482352016 Hereditary disorder of musculoskeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

926 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of musculoskeletal system est un(e) (attribut) maladie du système musculosquelettique (trouble) true Inferred relationship Some
Hereditary disorder of musculoskeletal system est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of musculoskeletal system localisation d'une constatation (attribut) appareil locomoteur true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Ulna metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 2 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 3 (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachyolmia type 1 Toledo type (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive muscular dystrophy with limb girdle distribution est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Proximal myotonic myopathy (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A1 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A4 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A6 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Smith McCort dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital bowing of long bone (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Frontofacionasal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Heide syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylocamptodactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant spondylocostal dysostosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Multiple osteochondroma of long bone (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
spectre ostéolyse multicentrique-nodulose-arthropathie est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial digital arthropathy and brachydactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
brachyolmie autosomique dominante est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lissencephaly syndrome Norman Roberts type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neurogenic arthrogryposis multiplex congenita (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant centronuclear myopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Enlarged parietal foramina (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dysplasie acromésomélique type Maroteaux est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome héréditaire de calcification artérielle et articulaire est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
DK phocomelia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Upington disease est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Missouri type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Shohat type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dysplasie spondylo-épiphysaire type Maroteaux est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pyknoachondrogenesis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
BSG syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pelvis shoulder dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pelviscapular dysplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal recessive chondrodysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal Larsen-like syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft palate with short stature and vertebral anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleidorhizomelic syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Stickler syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked mandibulofacial dysostosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked myopathy with excessive autophagy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Irapa type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
chondrodysplasie dominante liée à l'X type Chassaing-Lacombe est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
camptodactylie de Tel Hashomer est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Temtamy syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofrontofacionasal dysostosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acropectoral syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrorenal mandibular syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocapitofemoral dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocraniofacial dysostosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acropectorovertebral dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some

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