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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
Gouty tophus of bursa Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Gouty tophus of tendon Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Thrombocythaemia with distal limb defect Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome classic type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome with periventricular heterotopia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome progeroid type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Brittle cornea syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Bieganski type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylometaphyseal dysplasia Golden type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Genevieve type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Zechi Ceide syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Nestor Guillermo progeria syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis and dental anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Roifman syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Childhood-onset spasticity with hyperglycinaemia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal occipital encephalocele, skeletal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked myopathy with postural muscle atrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylo-megaepiphyseal-metaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pyknodysostosis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteopetrosis hypogammaglobulinaemia syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Peripheral dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Polyglucosan body myopathy type 1 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant prognathism of mandible Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fibroblast growth factor receptor 2-related bent bone dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cystinuria, type 1 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive cutis laxa type 2B Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Stewart-Morel-Morgagni syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked osteoporosis with fractures Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fatal infantile hypertonic myofibrillar myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
High bone mass osteogenesis imperfecta Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked calvarial hyperostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Extensor tendons of finger anomalies Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thoracic dysplasia and hydrocephalus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Richieri Costa-da Silva syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
DNA2-related mitochondrial DNA deletion syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Parana hard skin syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Leigh syndrome with nephrotic syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Holzgreve syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Stickler syndrome type 3 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thoracomelic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary progressive muscular dystrophy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteopetrosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteosclerosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Reunion Island Larsen-like syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive brachyolmia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Alpha-B crystallin-related late-onset myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylometaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Otopalatodigital syndrome spectrum disorder Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive cutis laxa type 2A Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aneurysm osteoarthritis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal arthrogryposis type 4 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Polydactyly of triphalangeal thumb Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Triphalangeal thumb and polysyndactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked dominant chondrodysplasia punctata of Happle Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal multiple pterygium syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital lethal myopathy Compton North type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Genetically determined myasthenia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muenke syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteopathia striata, pigmentary dermopathy, white forelock syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Amyotonia congenita Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary acroosteolysis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Inherited spastic paresis Is a False 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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