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363212003: Hereditary disorder of musculoskeletal system (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

949 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of musculoskeletal system Is a Musculoskeletal disorder 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 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
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
Congenital hereditary muscular dystrophy 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 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 Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Tibial aplasia and ectrodactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial avascular necrosis of head of femur Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive distal osteolysis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spastic paraparesis and deafness Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata Toriello type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
MacDermot Winter syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Gnathodiaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylo-ocular syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial osteochondritis dissecans Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ulna metaphyseal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 1 Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 3 Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephaly with cervical spine fusion anomaly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Reardon Hall Slaney syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Reinhardt Pfeiffer mesomelic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fibular aplasia and complex brachydactyly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis 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 Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A1 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A4 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A6 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Smith McCort dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital bowing of long bone Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Gollop Wolfgang complex Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Gollop syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Haspeslagh Fryns Muelenaere syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Morse Rawnsley Sargent syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Nathalie syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Heide syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Verloes Bourguignon syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylocamptodactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant spondylocostal dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypoplastic tibia and postaxial polydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Multiple osteochondroma Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Multicentric osteolysis nodulosis arthropathy spectrum Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial digital arthropathy and brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant brachyolmia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lissencephaly syndrome Norman Roberts type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neurogenic arthrogryposis multiplex congenita Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant centronuclear myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Enlarged parietal foramina Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acromesomelic dysplasia Maroteaux type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aase Smith type 1 syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mammary digital nail syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia MacDermot type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Cantu type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Nishimura type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Von Voss-Cherstvoy syndrome 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 syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Missouri type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia PAPSS2 type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Shohat type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Maroteaux type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia aggrecan type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia matrilin-3 type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pyknoachondrogenesis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Branchioskeletogenital syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pelvis shoulder dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pelviscapular dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephaly with brachydactyly and kyphoscoliosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal recessive chondrodysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal Larsen-like syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mesomelic dysplasia Kantaputra type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft palate with short stature and vertebral anomaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleidorhizomelic syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Stickler syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked mandibulofacial dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked myopathy with excessive autophagy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Irapa type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked dominant chondrodysplasia Chassaing Lacombe type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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