FHIR © HL7.org | Server Home | FHIR Server FHIR Server 4.0.1 | FHIR Version n/a User: [n/a]

53241000146108: congenitale myopathie (aandoening)

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)
\Disease\Disorder of muscle\Congenital myopathy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2018. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myopathy with hexagonally cross-linked tubular arrays	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital erector pili hamartoma	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Lethal infantile mitochondrial myopathy (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Pure mitochondrial myopathy (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Muscle and heart glycogen synthase deficiency (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital cardiospasm	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Hepatic glycogen synthase deficiency (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital absence of gastric muscle (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital diffuse lipomatosis	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Muscle filaminopathy	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Benign congenital hypotonia	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	False	Congenital myopathy (disorder)	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital anomaly of skeletal muscle	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder)	Is a	False	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital contracture of gastrocnemius muscle (disorder)	Is a	False	Congenital myopathy (disorder)	Inferred relationship	Some
Metabolic myopathy due to lactate transporter defect	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital laryngeal adductor palsy	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Is a	False	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital laryngeal abductor palsy	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Progressive myositis ossificans	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Myotonia congenita (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Cap myopathy	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Is a	False	Congenital myopathy (disorder)	Inferred relationship	Some
Autosomal dominant myoglobinuria (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital velopharyngeal incompetence	Is a	False	Congenital myopathy (disorder)	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Spheroid body myopathy	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital myotonic dystrophy	Is a	False	Congenital myopathy (disorder)	Inferred relationship	Some
Genetic recurrent myoglobinuria (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital chalasia of esophagus (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Myosclerosis (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital hourglass stomach (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Is a	False	Congenital myopathy (disorder)	Inferred relationship	Some
Progressive osseous heteroplasia (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Benign congenital myopathy	Is a	False	Congenital myopathy (disorder)	Inferred relationship	Some
Infantile spasm and broad thumb syndrome (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	Is a	False	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital rhabdomyomatous mesenchymal hamartoma	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital spastic foot	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Hereditary hyperekplexia (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
DNA2-related mitochondrial DNA deletion syndrome	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Multisystemic smooth muscle dysfunction syndrome (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Amyotonia congenita	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Richieri Costa-da Silva syndrome	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Aicardi's syndrome	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Fibrous dysplasia of bone with intramuscular myxoma	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital generalized hypercontractile muscle stiffness syndrome	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Glycogen storage disease due to muscle beta-enolase deficiency	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Nemaline myopathy, early onset type	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital monocular elevator palsy (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some
Congenital velopharyngeal dysfunction	Is a	True	Congenital myopathy (disorder)	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2272441000146112	Congenital myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2272451000146110	Congenital myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8918081000146111	aangeboren spierziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8918091000146113	congenitale myopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8918101000146118	congenitale myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)