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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
Cutaneous asthenia in dogs AND/OR cats (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
goutte articulaire est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Charcot-Marie-Tooth disease (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cherubism (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniodiaphyseal dysplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle L-lactate dehydrogenase deficiency (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
chondrodysplasie ponctuée rhizomélique est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
myotonie congénitale, forme autosomique dominante est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Leber's optic atrophy (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Menkes kinky-hair syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen synthase deficiency est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen storage disease, muscular form est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Porcine stress syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle phosphoglycerate mutase deficiency est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Franceschetti-Klein syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary hollow viscus myopathy est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
déficit en carnitine iatrogénique est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Multiple congenital exostosis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Limb reduction-ichthyosis syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Xanthoma tendinosum est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Metabolic disease of collagen est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Benign autosomal dominant osteopetrosis est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Robinow syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleidocranial dysostosis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Roussy-Levy syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle carnitine deficiency est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Andersen Tawil syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle AMP deaminase deficiency est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Non dystrophic myotonia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
tophus goutteux à une main est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Pachydermoperiostosis syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome chronique infantile neurologique, cutané et articulaire est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Mandibuloacral dysostosis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Radial aplasia-thrombocytopenia syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
anémie de Fanconi (trouble) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Giacci familial neurogenic acroosteolysis (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocephalosyndactyly type I est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary myositis ossificans est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Myoclonic epilepsy with ragged red fibers est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
angiodysplasie ostéodystrophique est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Duane-radial ray syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Polyostotic fibrous dysplasia of bone est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Shwachman syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Tarsal-carpal coalition syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
3-M syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Actin accumulation myopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Potassium aggravated myotonia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Crouzon syndrome with acanthosis nigricans (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary myopathy with early respiratory failure est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
paralysie horizontale du regard avec scoliose progressive est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Inclusion body myopathy 2 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Auriculo-condylar syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Kuskokwim syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Benign congenital myopathy est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dysplasie acromicrique est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly syndrome type B (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Carpenter's syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital dystrophia brevicollis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myotonia, autosomal recessive form est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Branchiooculofacial syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome prune belly (trouble) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dysplasie spondylo-épiphysaire tardive (trouble) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloenchondrodysplasia with immune dysregulation est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brody myopathy est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cap myopathy est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Majeed syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Retinal detachment and occipital encephalocele est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Primary Sjögren's syndrome with organ/system involvement (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Sjögren primaire avec atteinte multisystémique est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Secondary Sjögren's syndrome with organ/system involvement (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Sjögren secondaire avec atteinte multisystémique est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lipid storage myopathy est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
affection héréditaire du tissu conjonctif est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Baller-Gerold syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Antley-Bixler syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Atelosteogenesis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Jackson-Weiss syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal arthrogryposis syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital hereditary muscular dystrophy est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Progressive myositis ossificans est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Caveolin 3 related distal myopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome oto-onycho-péronéal est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Tibial aplasia and ectrodactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial avascular necrosis of head of femur (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive distal osteolysis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata Toriello type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Gnathodiaphyseal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloocular syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial osteochondritis dissecans (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ulna metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some

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