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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


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

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