541000146104: hereditaire myopathie (aandoening)

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

\Muscle finding\Disorder of muscle\Hereditary myopathy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)
\Disease\Disorder of muscle\Hereditary myopathy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary myopathy (disorder)	Is a	Hereditary disease	true	Inferred relationship	Some
Hereditary myopathy (disorder)	Is a	Disorder of muscle	true	Inferred relationship	Some
Hereditary myopathy (disorder)	Finding site	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Amyotonia congenita	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Multisystemic smooth muscle dysfunction syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Aicardi's syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy and myopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
'asymmetric crying face'-associatie (aandoening)	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
hereditaire spastische parese	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal dominant progressive external ophthalmoplegia (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hereditary myopathy associated with hydrocephalus	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal recessive progressive external ophthalmoplegia	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Huntington's chorea	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Familial hypokalemic periodic paralysis	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Muscle and heart glycogen synthase deficiency (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Generalized congenital lipodystrophy with myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Maternally inherited mitochondrial myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Severe X-linked myotubular myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Combined oxidative phosphorylation defect type 30	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy (disorder)	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Central core disease	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Actin accumulation myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Typical nemaline myopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Childhood-onset nemaline myopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Amish nemaline myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Intermediate nemaline myopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital fiber-type disproportion myopathy due to ZAK mutation	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital fiber-type disproportion myopathy due to TPM3 mutation	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
LAMA5-related multisystemic syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal dominant mitochondrial myopathy with exercise intolerance	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Polyglucosan body myopathy type 2	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hereditary continuous muscle fiber activity	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Severe oculo-renal-cerebellar syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Myopathic Ehlers-Danlos syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital myopathy with reduced type 2 muscle fibers	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Myosin storage myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Andersen Tawil syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Combined oxidative phosphorylation defect type 39	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Neutral lipid storage disease with myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal dominant myoglobinuria (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Isolated asymmetric crying facies	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Asymmetric crying facies syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some

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Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
6331000146110	Hereditary myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6341000146119	Hereditary myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
29111000146119	erfelijke spierziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4191261000146119	hereditaire myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4191271000146113	hereditaire myopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)