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363212003: Hereditary disorder of musculoskeletal system (disorder)

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

Descriptions:

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

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

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This concept is not in any reference sets

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