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
Hereditary neuralgic amyotrophy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hereditary rippling muscle disease (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Brody myopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Non dystrophic myotonia (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Glycogen synthase deficiency	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal dominant centronuclear myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hereditary hollow viscus myopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Inclusion body myopathy 2 (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Cap myopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Proximal myotonic myopathy (disorder)	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Muscle AMP deaminase deficiency	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Caveolin 3 related distal myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Prune belly syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Glycogen storage disease, muscular form	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Benign congenital myopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Potassium aggravated myotonia (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Progressive myositis ossificans	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal recessive muscular dystrophy with limb girdle distribution	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
pseudocholinesterasedeficiëntie	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Lipid storage myopathy	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Spastic paraparesis co-occurrent with deafness (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hereditary myopathy with early respiratory failure	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Myopathy with cryopyrin associated periodic syndrome (disorder)	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Puerto Rican infant hypotonia syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Progressive osseous heteroplasia (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
X-linked myopathy with excessive autophagy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hereditary inclusion body myositis (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Muscular dystrophy Selcen type (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Native American myopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Lethal infantile mitochondrial myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital myopathy with myasthenic-like onset (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Lethal congenital contracture syndrome type 5	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Muscle filaminopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Metabolic myopathy due to lactate transporter defect	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital myopathy with internal nuclei and atypical cores (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Spheroid body myopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
King Denborough syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Myosclerosis (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
X-linked parkinsonism with spasticity syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Autosomal recessive lower motor neuron disease with childhood onset	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Proximal myopathy with extrapyramidal signs	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
X-linked myopathy with postural muscle atrophy (disorder)	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hereditary inclusion body myopathy type 4 (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Cystinuria, type 1	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Desmin-related myofibrillar myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Late-onset distal myopathy Markesbery Griggs type (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Polyglucosan body myopathy type 1 (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Distal muscular dystrophy	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Digital extensor muscle aplasia with polyneuropathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital lethal myopathy Compton North type	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Childhood-onset spasticity with hyperglycinemia (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Fatal infantile hypertonic myofibrillar myopathy (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Lethal congenital contracture syndrome type 2 (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hereditary progressive muscular dystrophy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Alpha-B crystallin-related late-onset myopathy	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
DNA2-related mitochondrial DNA deletion syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hereditary hyperekplexia (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Richieri Costa-da Silva syndrome	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening)	Is a	False	Hereditary myopathy (disorder)	Inferred relationship	Some
Genetically determined myasthenia	Is a	True	Hereditary myopathy (disorder)	Inferred relationship	Some
Amyotonia congenita	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)