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363212003: Hereditary disorder of musculoskeletal system (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

949 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of musculoskeletal system Is a Musculoskeletal disorder 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 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
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
Pseudocholinesterase deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen storage disease Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloenchondromatosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Whyte Hemingway carpal tarsal phalangeal osteolyses 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
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
Ehlers-Danlos syndrome 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
Arthritis due to 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
Craniodiaphyseal dysplasia Is a True 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
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
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
Iatrogenic carnitine deficiency 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
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
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
Muscle carnitine deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Andersen Tawil syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle AMP deaminase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Non dystrophic myotonia 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
Pachydermoperiostosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chronic infantile neurological, cutaneous and articular syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Mandibuloacral dysostosis 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 anaemia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Giacci familial neurogenic acroosteolysis 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
Myoclonic epilepsy with ragged red fibres Is a True 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Duane-radial ray syndrome 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Actin accumulation myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Potassium aggravated myotonia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Crouzon syndrome with acanthosis nigricans Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary proximal 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia with congenital joint dislocations 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
Arthrogryposis-like 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly syndrome type B Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Carpenter's syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital dystrophia brevicollis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myotonia, autosomal recessive form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Branchiooculofacial syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Prune belly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloenchondrodysplasia with immune dysregulation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brody myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cap myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Majeed syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Retinal detachment and occipital encephalocoele Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Primary Sjögren's syndrome with organ/system involvement Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Primary Sjögren's syndrome with multisystem involvement Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Secondary Sjögren's syndrome with organ/system involvement Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Secondary Sjögren's syndrome with multisystem involvement 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
Baller-Gerold syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Antley-Bixler syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Atelosteogenesis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Jackson-Weiss syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal arthrogryposis syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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