363212003: hereditaire aandoening van bewegingsapparaat (aandoening)

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:

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
Short stature, brachydactyly, obesity, global developmental delay syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Maternally inherited mitochondrial myopathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Osteogenesis imperfecta, type IV B	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Melorheostosis with osteopoikilosis	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Typical nemaline myopathy	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Childhood-onset nemaline myopathy	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Amish nemaline myopathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Intermediate nemaline myopathy	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Central core disease	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital fiber-type disproportion myopathy due to ZAK mutation	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism type II	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital fiber-type disproportion myopathy due to TPM3 mutation	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Severe myopia, generalized joint laxity, short stature syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
QRICH1-related intellectual disability, chondrodysplasia syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal dominant mitochondrial myopathy with exercise intolerance	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Polyglucosan body myopathy type 2	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Complex lethal osteochondrodysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
8q24.3 microdeletion syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Frontorhiny (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hereditary continuous muscle fiber activity	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Isolated osteopoikilosis (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Osteofibrous dysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Severe oculo-renal-cerebellar syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Oculocerebrodental syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital myopathy with reduced type 2 muscle fibers	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Diaphyseal medullary stenosis with bone malignancy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial gigantiform cementoma of jaw (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Leri-Weill dyschondrosteosis	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Nievergelt's syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Myosin storage myopathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Craniosynostosis, microretrognathia, severe intellectual disability syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital insensitivity to pain, anosmia, neuropathic arthropathy	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Combined oxidative phosphorylation defect type 39	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Triopia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Mannosidosis	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
I-cell disease	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
GM1 gangliosidosis	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Sialic storage disease	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Neutral lipid storage disease with myopathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal dominant myoglobinuria (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial articular hypermobility syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloenchondrodysplasia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Singleton-Merten syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Isolated asymmetric crying facies	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Asymmetric crying facies syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hereditary neuralgic amyotrophy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hereditary rippling muscle disease (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
PAPA-syndroom	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
CACP-syndroom (aandoening)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hereditary inclusion body myositis (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some

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Reference Sets

Description inactivation indicator reference set

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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
6478101000146116	hereditaire aandoening van bewegingsapparaat (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6478111000146119	erfelijke ziekte van tractus locomotorius	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6478121000146112	erfelijke ziekte van musculoskeletaal stelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6478131000146114	erfelijke ziekte van musculoskeletaal systeem	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6478141000146118	hereditaire aandoening van bewegingsapparaat	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)