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53241000146108: congenitale myopathie (aandoening)


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:

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)


252 descendants. Search Descendants:

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)

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