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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

950 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of musculoskeletal system Is a Disorder of musculoskeletal system true Inferred relationship Some
Hereditary disorder of musculoskeletal system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of musculoskeletal system Finding site Structure of musculoskeletal system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Brachydactyly syndrome type B (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Carpenter's syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital dystrophia brevicollis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myotonia, autosomal recessive form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Branchiooculofacial syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Prune belly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloenchondrodysplasia with immune dysregulation Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brody myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cap myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Majeed syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Retinal detachment and occipital encephalocele Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Baller-Gerold syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Antley-Bixler syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Atelosteogenesis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Jackson-Weiss syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal arthrogryposis syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Progressive myositis ossificans Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Caveolin 3 related distal myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Oto-onycho-peroneal syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Tibial aplasia and ectrodactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial avascular necrosis of head of femur (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive distal osteolysis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata Toriello type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Gnathodiaphyseal dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloocular syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial osteochondritis dissecans (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ulna metaphyseal dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 2 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 3 (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a 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) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachyolmia type 1 Toledo type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive muscular dystrophy with limb girdle distribution Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Proximal myotonic myopathy (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A1 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A4 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A6 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Smith McCort dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital bowing of long bone (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Frontofacionasal dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Heide syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylocamptodactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant spondylocostal dysostosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Multiple osteochondroma of long bone (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Multicentric osteolysis nodulosis arthropathy spectrum (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial digital arthropathy and brachydactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant brachyolmia (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lissencephaly syndrome Norman Roberts type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neurogenic arthrogryposis multiplex congenita (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant centronuclear myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Enlarged parietal foramina (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acromesomelic dysplasia Maroteaux type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mammary digital nail syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
DK phocomelia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Upington disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Missouri type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Shohat type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Maroteaux type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pyknoachondrogenesis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
BSG syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pelvis shoulder dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pelviscapular dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some

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