363212003: Hereditary disorder of musculoskeletal system (disorder)

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

\Musculoskeletal finding\Disorder of musculoskeletal system\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\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

4629511000005119 hereditær sygdom i det muskuloskeletale system da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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
pseudo-kolinesterasemangel	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 mitochondrial encephalomyopathy with characteristics of myoclonic seizures. Patients usually present during adolescence or early adulthood with myoclonic epilepsy, sometimes with neurosensory deafness, optic atrophy, short stature or peripheral neuropathy. The disease is progressive with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness, and dementia. Caused by mutations in the mitochondrial DNA.	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
primært Sjögrens syndrom med involvering af flere organer/systemer	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
primært Sjögrens syndrom med multisysteminvolvering	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
sekundært Sjögrens syndrom med involvering af flere organer/systemer	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
sekundært Sjögrens syndrom med multisysteminvolvering	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
hereditær bindevævssygdom	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	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	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
Glucoaminophosphaturi-syndrom med rakit	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
Hand-Schüller-Christians sygdom	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-Tooths sygdom	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
kerubisme	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-Kleins syndrom	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 (disorder)	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 osteopetrose	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	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
Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of 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	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 very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease 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
Kutan asteni hos hunde OG/ELLER katte	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's syndrom	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
A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of 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 frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait.	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
Hereditær myositis ossificans	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Klippel-Trénaunay-Webers syndrom	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	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
4629511000005119	hereditær sygdom i det muskuloskeletale system	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)