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363212003: Hereditary disorder of musculoskeletal system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482352016 Hereditary disorder of musculoskeletal system en Synonym Active Entire term case insensitive SNOMED CT core module
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

948 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 Existential restriction modifier
Hereditary disorder of musculoskeletal system Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Hereditary disorder of musculoskeletal system Finding site Structure of musculoskeletal system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Pseudocholinesterase deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Craniodiaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Mandibuloacral dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Myoclonic epilepsy with ragged red fibers Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Primary Sjögren's syndrome with organ/system involvement Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Primary Sjögren's syndrome with multisystem involvement Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Secondary Sjögren's syndrome with organ/system involvement Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Secondary Sjögren's syndrome with multisystem involvement Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Lipid storage myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Inherited disorder of connective tissue Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital hereditary muscular dystrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Geroderma osteodysplastica Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Dysostosis multiplex group Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Tophus of bursa co-occurrent and due to gout Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Tophus of tendon co-occurrent and due to gout Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Tophus of ear co-occurrent and due to gout Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Triglyceride storage disease with ichthyosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Chondrodysplasia punctata, Conradi-Hünermann type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Glucoaminophosphaturia syndrome with rickets Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Distal arthrogryposis syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Kearns-Sayre syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary motor end-plate disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Pyle metaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Glycogen storage disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Morquio syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hand-Schüller-Christian disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ochronotic arthritis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Papillon-Lefèvre syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Arthritis due to gout Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cherubism Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Muscle L-lactate dehydrogenase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital myotonia, autosomal dominant form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Leber's optic atrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Menkes kinky-hair syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Muscle phosphoglycerate mutase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Franceschetti-Klein syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary hollow viscus myopathy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Limb reduction-ichthyosis syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Xanthoma tendinosum Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Metabolic disease of collagen Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Benign autosomal dominant osteopetrosis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Robinow syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Muscle carnitine deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Muscle adenosine monophosphate deaminase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Tophus of hand co-occurrent and due to gout Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal dominant hypophosphatemic bone disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal recessive hypophosphatemic bone disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Nail-patella syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Inherited arthrogryposis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Acrodysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Acrocephalosyndactyly type V Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cutis laxa with osteodystrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteogenesis imperfecta Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hypermobility syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Bovine hereditary syndactyly Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloenchondromatosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Whyte Hemingway carpal tarsal phalangeal osteolyses Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Freeman-Sheldon syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cutaneous asthenia in dogs AND/OR cats Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Glycogen synthase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Glycogen storage disease, muscular form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Porcine stress syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Iatrogenic carnitine deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Multiple congenital exostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cleidocranial dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Roussy-Levy syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Andersen Tawil syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Non dystrophic myotonia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Pachydermoperiostosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Chronic infantile neurological, cutaneous and articular syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Radial aplasia-thrombocytopenia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Fanconi's anemia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Giacci familial neurogenic acroosteolysis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Acrocephalosyndactyly type I Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary myositis ossificans Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Klippel-Trenaunay-Weber syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Myopathy with deficiency of iron-sulfur cluster assembly enzyme Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Duane-radial ray syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Polyostotic fibrous dysplasia of bone Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Shwachman syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Tarsal-carpal coalition syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Dolichospondylic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Actin accumulation myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Potassium aggravated myotonia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Crouzon syndrome with acanthosis nigricans Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary myopathy with early respiratory failure Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Horizontal gaze palsy with progressive scoliosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Inclusion body myopathy 2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia with congenital joint dislocations Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Auriculo-condylar syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Arthrogryposis-like syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Benign congenital myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Acromicric dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Brachydactyly syndrome type B Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier

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