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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 Reference Sets
482352016 Hereditary disorder of musculoskeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2233501000172112 myopathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian GP French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2233511000172110 hereditaire myopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian GP Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

829 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
Pseudocholinesterase deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniodiaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mandibuloacral dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Myoclonic epilepsy with ragged red fibers Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Sjögren primaire avec atteinte organique ou systémique Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Sjögren primaire avec atteinte multisystémique Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Sjögren secondaire avec atteinte organique ou systémique Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Sjögren secondaire avec atteinte multisystémique Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lipid storage myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Inherited disorder of connective tissue Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital hereditary muscular dystrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Geroderma osteodysplastica (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dysostosis multiplex group Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Gouty tophus of bursa Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Gouty tophus of tendon Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Gouty tophus of pinna Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Triglyceride storage disease with ichthyosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata, Conradi-Hünermann type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal arthrogryposis syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Kearns-Sayre syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary motor end-plate disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Pyle metaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen storage disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Morquio syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hand-Schüller-Christian disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ochronotic arthritis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Papillon-Lefèvre syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Articular gout Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Charcot-Marie-Tooth disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cherubism Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle L-lactate dehydrogenase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Rhizomelic chondrodysplasia punctata syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myotonia, autosomal dominant form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Leber's optic atrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Menkes kinky-hair syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle phosphoglycerate mutase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Franceschetti-Klein syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary hollow viscus myopathy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Limb reduction-ichthyosis syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Xanthoma tendinosum Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Metabolic disease of collagen Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Benign autosomal dominant osteopetrosis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Robinow syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle carnitine deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle AMP deaminase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Gouty tophus of hand Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive hypophosphatemic bone disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Nail-patella syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Inherited arthrogryposis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrodysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutis laxa with osteodystrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypermobility syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Bovine hereditary syndactyly Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloenchondromatosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Freeman-Sheldon syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutaneous asthenia in dogs AND/OR cats Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen synthase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen storage disease, muscular form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Porcine stress syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Iatrogenic carnitine deficiency (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Multiple congenital exostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleidocranial dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Roussy-Levy syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Andersen Tawil syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Non dystrophic myotonia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pachydermoperiostosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chronic infantile neurological, cutaneous and articular syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Radial aplasia-thrombocytopenia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fanconi's anemia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Giacci familial neurogenic acroosteolysis (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocephalosyndactyly type I Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary myositis ossificans Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Klippel-Trenaunay-Weber syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Duane-radial ray syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Polyostotic fibrous dysplasia of bone Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Shwachman syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Tarsal-carpal coalition syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
3-M syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Actin accumulation myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Potassium aggravated myotonia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Crouzon syndrome with acanthosis nigricans (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary myopathy with early respiratory failure Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Horizontal gaze palsy with progressive scoliosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Inclusion body myopathy 2 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Auriculo-condylar syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Kuskokwim syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Benign congenital myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acromicric dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly syndrome type B (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some

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Reference Sets

Belgian GP subset (foundation metadata concept)

Description inactivation indicator reference set

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