Congenital myopathies

Preferred Label : Congenital myopathies;

Inclusion CIM-10 : Multicore disease; Central core disease; Minicore disease; Myotubular (centronuclear) myopathy; Nemaline myopathy; Fiber-type disproportion;

ICD-10 exclusion note : arthrogryposis multiplex congenita (Q74.3);

Diag associé à un acte (%) : 80.4;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

G712;

UMLS CUI

C0270960;

Automatic exact mappings (from CISMeF team)
- Central Core Disease [NCIt concept]
- Central core disease [ORDO Disease]
- Central core disease [MedDRA Preferred Term]
- Central core disease (disorder) [SNOMED CT concept]
- Multi-core congenital myopathy (disorder) [SNOMED CT concept]
- Nemaline myopathy [ORDO Disease]
- Nemaline myopathy [PASCAL descriptor]
- Nemaline myopathy [OMIM phenotypic series]
- Nemaline myopathy (disorder) [SNOMED CT concept]
- myopathies, nemaline [MeSH Descriptor]
- myopathy, central core [MeSH Descriptor]
- myopathy, central core [MeSH concept]
Currated CISMeF NLP mapping
- Batten Turner congenital myopathy [DO Concept]
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myopathies [ICD-11 Category]
- Congenital myopathies [ICD-10 Sub-category (who)]
- Congenital myopathy [ORDO Disease]
- Congenital myopathy [MedDRA Preferred Term]
- Congenital myopathy (disorder) [Inactive SNOMED CT concept]
- Congenital myotonia [ORDO Disease]
- MYOTONIA CONGENITA [WHO-ART Preferred Term]
- Myotonia Congenita [NCIt concept]
- Myotonia congenita [ICD-9 code]
- Myotonia congenita [MedDRA Preferred Term]
- Myotonia congenita (disorder) [SNOMED CT concept]
- Myotonia congenital [MedDRA LLT]
- Thomsen and Becker disease [ORDO Disease]
- Thomsen's disease [MedDRA LLT]
- congenital myopathy, nos [SNOMED Notion]
- congenital myotonia, nos [SNOMED Notion]
- generalized myotonia of thomsen [MeSH concept]
- myotonia congenita [MeSH Descriptor]
- myotonia congenita [Disease (Nov.)]
- myotonia congenita [MeSH concept]
- myotonia congenita [DO Concept]
DO Cross reference
- congenital muscular dystrophy 1B [DO Concept]
- congenital muscular dystrophy due to LMNA mutation [DO Concept]
- congenital muscular dystrophy due to integrin alpha-7 deficiency [DO Concept]
- megaconial type congenital muscular dystrophy [DO Concept]
- muscular dystrophy-dystroglycanopathy [DO Concept]
- muscular dystrophy-dystroglycanopathy type B5 [DO Concept]
- muscular dystrophy-dystroglycanopathy type B6 [DO Concept]
- rigid spine muscular dystrophy 1 [DO Concept]
Excluded by
- Muscular dystrophy [ICD-10 Sub-category]
Manual NTBT mappings (CISMeF)
- Bethlem muscular dystrophy [ORDO Disease]
- Cap myopathy [ORDO Disease]
- Congenital fiber-type disproportion myopathy [ORDO Disease]
- Congenital lethal myopathy, Compton-North type [ORDO Disease]
- Congenital muscular dystrophy due to LMNA mutation [ORDO Disease]
- Congenital muscular dystrophy due to extracellular matrix protein anomaly [ORDO Disease]
- Congenital muscular dystrophy due to glycosyltransferase anomaly [ORDO Disease]
- Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly [ORDO Disease]
- Congenital muscular dystrophy type 1B [ORDO Disease]
- Congenital muscular dystrophy type 1C [ORDO Disease]
- Congenital muscular dystrophy type 1D [ORDO Disease]
- Congenital muscular dystrophy with integrin alpha-7 deficiency [ORDO Disease]
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome [ORDO Disease]
- Congenital myopathy with central nuclei [ORDO Disease]
- Congenital myopathy with cores [ORDO Disease]
- Congenital myopathy with fibre size variation [ORDO Disease]
- Congenital myopathy with protein accumulation [ORDO Disease]
- Congenital myopathy with vacuoles [ORDO Disease]
- Congenital myopathy, Paradas type [ORDO Disease]
- Intellectual disability-myopathy-short stature-endocrine defect syndrome [ORDO Disease]
- King-Denborough syndrome [ORDO Disease]
- Laminin subunit alpha 2-related congenital muscular dystrophy [ORDO Disease]
- Myopathy with hexagonally cross-linked tubular arrays [ORDO Disease]
- Myosin storage myopathy [ORDO Disease]
- Native American myopathy [ORDO Disease]
- Rigid spine syndrome [ORDO Disease]
- Ullrich congenital muscular dystrophy [ORDO Disease]
Orphanet concepts
- Adult-onset nemaline myopathy [ORDO Disease]
- Amish nemaline myopathy [ORDO Disease]
- Antenatal multiminicore disease with arthrogryposis multiplex congenita [ORDO Disease]
- Autosomal dominant centronuclear myopathy [ORDO Disease]
- Autosomal recessive centronuclear myopathy [ORDO Disease]
- Benign Samaritan congenital myopathy [ORDO Disease]
- Cap myopathy [ORDO Disease]
- Central core disease [ORDO Disease]
- Centronuclear myopathy [ORDO Disease]
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia [ORDO Disease]
- Childhood-onset nemaline myopathy [ORDO Disease]
- Classic multiminicore myopathy [ORDO Disease]
- Congenital fiber-type disproportion myopathy [ORDO Disease]
- Congenital generalized hypercontractile muscle stiffness syndrome [ORDO Disease]
- Congenital lethal myopathy, Compton-North type [ORDO Disease]
- Congenital multicore myopathy with external ophthalmoplegia [ORDO Disease]
- Congenital muscular dystrophy [ORDO Disease]
- Congenital muscular dystrophy due to LMNA mutation [ORDO Disease]
- Congenital muscular dystrophy due to dystroglycanopathy [ORDO Disease]
- Congenital muscular dystrophy type 1B [ORDO Disease]
- Congenital muscular dystrophy type 1C [ORDO Disease]
- Congenital muscular dystrophy type 1D [ORDO Disease]
- Congenital muscular dystrophy with cerebellar involvement [ORDO Disease]
- Congenital muscular dystrophy with hyperlaxity [ORDO Disease]
- Congenital muscular dystrophy with integrin alpha-7 deficiency [ORDO Disease]
- Congenital muscular dystrophy with intellectual disability [ORDO Disease]
- Congenital muscular dystrophy without intellectual disability [ORDO Disease]
- Congenital myopathy [ORDO Disease]
- Congenital myopathy with central nuclei [ORDO Disease]
- Congenital myopathy with cores [ORDO Disease]
- Congenital myopathy with excess of thin filaments [ORDO Disease]
- Congenital myopathy with fibre size variation [ORDO Disease]
- Congenital myopathy with internal nuclei and atypical cores [ORDO Disease]
- Congenital myopathy with myasthenic-like onset [ORDO Disease]
- Congenital myopathy with protein accumulation [ORDO Disease]
- Congenital myopathy with reduced type 2 muscle fibers [ORDO Disease]
- Congenital myopathy with vacuoles [ORDO Disease]
- Congenital myopathy, Paradas type [ORDO Disease]
- Cylindrical spirals myopathy [ORDO Disease]
- Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome [ORDO Disease]
- Fatal infantile hypertonic myofibrillar myopathy [ORDO Disease]
- Fetal akinesia-cerebral and retinal hemorrhage syndrome [ORDO Disease]
- Fingerprint body myopathy [ORDO Disease]
- GMPPB-related limb-girdle muscular dystrophy R19 [ORDO Disease]
- Intermediate collagen VI-related muscular dystrophy [ORDO Disease]
- Intermediate nemaline myopathy [ORDO Disease]
- King-Denborough syndrome [ORDO Disease]
- Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome [ORDO Disease]
- Laminin subunit alpha 2-related congenital muscular dystrophy [ORDO Disease]
- Megaconial congenital muscular dystrophy [ORDO Disease]
- Moderate multiminicore disease with hand involvement [ORDO Disease]
- Multiminicore myopathy [ORDO Disease]
- Muscular dystrophy-white matter spongiosis syndrome [ORDO Disease]
- Myopathy with hexagonally cross-linked tubular arrays [ORDO Disease]
- Myosin storage myopathy [ORDO Disease]
- Native American myopathy [ORDO Disease]
- Nemaline myopathy [ORDO Disease]
- Primary qualitative or quantitative defects of alpha-dystroglycan [ORDO Disease]
- Qualitative or quantitative defects of alpha-dystroglycan [ORDO Disease]
- Reducing body myopathy [ORDO Disease]
- Rigid spine syndrome [ORDO Disease]
- Severe congenital nemaline myopathy [ORDO Disease]
- Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome [ORDO Disease]
- Symptomatic form of X-linked centronuclear myopathy in female carriers [ORDO Disease]
- Tubular aggregate myopathy [ORDO Disease]
- Typical nemaline myopathy [ORDO Disease]
- Ullrich congenital muscular dystrophy [ORDO Disease]
- X-linked centronuclear myopathy [ORDO Disease]
- Zebra body myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Batten-turner congenital myopathy [OMIM Phenotype]
- Congenital myopathy [MedDRA Preferred Term]
- congenital myopathy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Central core disease [ICD-11 Sub-sub category]
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
- Congenital myopathy with excess of thin filaments [ORDO Disease]
- Cylindrical spirals myopathy [ORDO Disease]
- Nemaline myopathy [ICD-11 Sub-sub category]
- congenital myopathy 1A [DO Concept]
- muscular dystrophy-dystroglycanopathy type B5 [DO Concept]
- myotonia congenita [Disease (Nov.)]
- nemaline myopathy [DO Concept]

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