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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
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
SIX2-related frontonasal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chitty Hall Baraitser syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Combined oxidative phosphorylation defect type 30 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe X-linked myotubular myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
NEK9-related lethal skeletal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen storage disease due to lactate dehydrogenase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sugarman brachydactyly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Maternally inherited mitochondrial myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta, type IV B Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Melorheostosis with osteopoikilosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Typical nemaline myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Childhood-onset nemaline myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Amish nemaline myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intermediate nemaline myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Steel syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Central core disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ZAK mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive congenital fibre-type disproportion myopathy due to SELENON mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism type II Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital fibre-type disproportion myopathy due to TPM3 mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital fibre-type disproportion myopathy due to MYH7 mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe myopia, generalised joint laxity, short stature syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant mitochondrial myopathy with exercise intolerance Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Polyglucosan body myopathy type 2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Complex lethal osteochondrodysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Stanescu type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
8q24.3 microdeletion syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Frontorhiny Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary continuous muscle fibre activity Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Isolated osteopoikilosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteofibrous dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe oculo-renal-cerebellar syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Oculocerebrodental syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myopathy with reduced type 2 muscle fibres Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphyseal medullary stenosis with bone malignancy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
EVEN-plus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial gigantiform cementoma of jaw Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chronic infantile neurological, cutaneous and articular syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive hypophosphataemic bone disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Nail-patella syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Inherited arthrogryposis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrodysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocephalosyndactyly type V Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutis laxa with osteodystrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypermobility syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Gouty tophus of pinna Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Mule foot deformity Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Triglyceride storage disease with ichthyosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata, Conradi-Hünermann type 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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