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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

954 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
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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) 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 (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) 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 fiber-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 fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) 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 fiber-type disproportion myopathy due to TPM3 mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe myopia, generalized 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 (disorder) 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 (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) 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 (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Frontorhiny (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary continuous muscle fiber activity Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Isolated osteopoikilosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteofibrous dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) 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 fibers Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphyseal medullary stenosis with bone malignancy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial gigantiform cementoma of jaw (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Leri-Weill dyschondrosteosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Nievergelt's syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Myosin storage myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis, microretrognathia, severe intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital insensitivity to pain, anosmia, neuropathic arthropathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Combined oxidative phosphorylation defect type 39 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some

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