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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
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Maternally inherited mitochondrial myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Maternally inherited mitochondrial cardiomyopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteogenesis imperfecta, type IV B Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Melorheostosis with osteopoikilosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Typical nemaline myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Childhood-onset nemaline myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Amish nemaline myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Intermediate nemaline myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Lethal neonatal spasticity, epileptic encephalopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Central core disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to ZAK mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic primordial dwarfism type II Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Neurogenic scapuloperoneal syndrome Kaeser type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal dominant mitochondrial myopathy with exercise intolerance Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Early-onset calcifying leukoencephalopathy, skeletal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autoimmune interstitial lung disease, arthritis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Polyglucosan body myopathy type 2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Complex lethal osteochondrodysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Stanescu type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
8q24.3 microdeletion syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Frontorhiny Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary continuous muscle fiber activity Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Isolated osteopoikilosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteofibrous dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Severe oculo-renal-cerebellar syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Oculocerebrodental syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital myopathy with reduced type 2 muscle fibers Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Diaphyseal medullary stenosis with bone malignancy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital vertebral, cardiac, renal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial gigantiform cementoma of jaw Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier

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