363212003: Hereditary disorder of musculoskeletal system (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system

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

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

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	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
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.	Is a	True	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	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
affection héréditaire du tissu conjonctif	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital hereditary muscular dystrophy (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Geroderma osteodysplastica	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Dysostosis multiplex group	Is a	False	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 (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Is a	False	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
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	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
maladie de Hand-Schüller-Christian	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
Gouty arthritis	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
A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhoea, dysphagia, and/or urinary tract infections.	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 (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.	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
Chronic tophaceous gout of hand (disorder)	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
A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.	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	True	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 (disorder)	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
A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.	Is a	False	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 (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterised by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme fruste with prominent pachydermia and minimal-to-absent skeletal changes.	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
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
angiodysplasie ostéodystrophique	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
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance.	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 (disorder)	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 (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some

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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
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