FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4  |  FHIR Version n/a  User: [n/a]

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

926 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of musculoskeletal system est un(e) (attribut) maladie du système musculosquelettique (trouble) true Inferred relationship Some
Hereditary disorder of musculoskeletal system est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of musculoskeletal system localisation d'une constatation (attribut) appareil locomoteur true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
SIX homeobox 2-related frontonasal dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Allan-Herndon-Dudley syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Combined oxidative phosphorylation defect type 30 est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe X-linked myotubular myopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
NEK9-related lethal skeletal dysplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen storage disease due to lactate dehydrogenase deficiency est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sugarman brachydactyly (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Maternally inherited mitochondrial myopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta, type IV B est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Melorheostosis with osteopoikilosis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Typical nemaline myopathy est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Childhood-onset nemaline myopathy est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Amish nemaline myopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intermediate nemaline myopathy est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) est un(e) (attribut) 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) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
myopathie congénitale à "central cores" (trouble) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital fiber-type disproportion myopathy due to ZAK mutation est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism type II est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital fiber-type disproportion myopathy due to TPM3 mutation est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant mitochondrial myopathy with exercise intolerance est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Polyglucosan body myopathy type 2 est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Complex lethal osteochondrodysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Stanescu type est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
8q24.3 microdeletion syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Frontorhiny (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary continuous muscle fiber activity est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Isolated osteopoikilosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteofibrous dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive hypophosphatemic bone disease est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Nail-patella syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Inherited arthrogryposis est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrodysostosis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
acro-céphalo-syndactylie de type V est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
cutis laxa avec ostéodystrophie est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypermobility syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
tophus goutteux d'une oreille est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Bovine hereditary syndactyly (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Triglyceride storage disease with ichthyosis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata, Conradi-Hünermann type est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal arthrogryposis syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Kearns-Sayre (trouble) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
maladie héréditaire de la plaque motrice est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Pyle metaphyseal dysplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Butyrylcholinesterase deficiency est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloenchondromatosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Morquio syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hand-Schüller-Christian disease est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
arthrite ochronotique est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Papillon-Lefèvre (trouble) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutaneous asthenia in dogs AND/OR cats (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some

Start Previous Page 3 of 8 Next End

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start