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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
482352016 Hereditary disorder of musculoskeletal system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
6274161000241113 affection héréditaire du système musculosquelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6274161000241113 affection héréditaire du système musculosquelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

984 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 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of musculoskeletal system Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of musculoskeletal system Finding site Structure of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Pseudocholinesterase deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Craniodiaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Mandibuloacral dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren primaire avec atteinte organique ou systémique Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren primaire avec atteinte multisystémique Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren secondaire avec atteinte organique ou systémique Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren secondaire avec atteinte multisystémique Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Lipid storage myopathy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
affection héréditaire du tissu conjonctif Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hereditary muscular dystrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Geroderma osteodysplastica Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis multiplex group Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Gouty tophus of bursa Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Gouty tophus of tendon Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Gouty tophus of pinna (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Triglyceride storage disease with ichthyosis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, Conradi-Hünermann type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Glucoaminophosphaturia syndrome with rickets Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Kearns-Sayre syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor end-plate disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Pyle metaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Morquio syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
maladie de Hand-Schüller-Christian Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ochronotic arthritis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Gouty arthritis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cherubism Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Muscle L-lactate dehydrogenase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myotonia, autosomal dominant form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Leber's optic atrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Menkes kinky-hair syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Muscle phosphoglycerate mutase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Franceschetti-Klein syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hollow viscus myopathy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Xanthoma tendinosum Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic disease of collagen Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Benign autosomal dominant osteopetrosis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Muscle carnitine deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Muscle adenosine monophosphate deaminase deficiency (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Chronic tophaceous gout of hand (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypophosphatemic bone disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic bone disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Nail-patella syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Inherited arthrogryposis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Acrodysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type V (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa with osteodystrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hypermobility syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Bovine hereditary syndactyly Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloenchondromatosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Freeman-Sheldon syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cutaneous asthenia in dogs AND/OR cats Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen synthase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, muscular form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Porcine stress syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Iatrogenic carnitine deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital exostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cleidocranial dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Roussy-Levy syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Non dystrophic myotonia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Pachydermoperiostosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Chronic infantile neurological, cutaneous and articular syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Radial aplasia-thrombocytopenia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Fanconi's anemia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Giacci familial neurogenic acroosteolysis (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type I Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary myositis ossificans Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
angiodysplasie ostéodystrophique Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Duane-radial ray syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Polyostotic fibrous dysplasia of bone Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Shwachman syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Tarsal-carpal coalition syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
3-M syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Actin accumulation myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Potassium aggravated myotonia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary myopathy with early respiratory failure Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Horizontal gaze palsy with progressive scoliosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Inclusion body myopathy 2 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Auriculo-condylar syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Kuskokwim syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Benign congenital myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Acromicric dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)

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