Muscular dystrophy

Preferred Label : Muscular dystrophy;

Inclusion CIM-10 : Autosomal recessive, childhood type, muscular dystrophy resembling Duchenne or Becker muscular dystrophy; Ocular muscular dystrophy; Oculopharyngeal muscular dystrophy; Scapuloperoneal muscular dystrophy; Severe [Duchenne] muscular dystrophy; Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber; Limb-girdle muscular dystrophy; Congenital muscular dystrophy NOS; Distal muscular dystrophy; Facioscapulohumeral muscular dystrophy; Benign scapuloperoneal muscular dystrophy with early contractures [Emery-Dreifuss]; Benign [Becker] muscular dystrophy;

Diag associé à un acte (%) : 85.3;

Source : OMS;

Date de début : 01/01/1997;

Détails

Origin ID

G710;

UMLS CUI

C0026850;

Automatic exact mappings (from CISMeF team)
- Distal Muscular Dystrophy [NCIt concept]
- Distal muscular dystrophy (disorder) [SNOMED CT concept]
- Distal myopathies [ICD-11 Category]
- Distal myopathy [ORDO Disease]
- Ocular muscular dystrophy [ICD-11 More detail]
- Ocular muscular dystrophy (disorder) [SNOMED CT concept]
- Scapuloperoneal muscular dystrophy (disorder) [SNOMED CT concept]
- Scapuloperoneal myopathy, myh7-related [OMIM Phenotype]
- distal myopathies [MeSH Descriptor]
- distal myopathy [DO Concept]
- dystrophin [HGNC gene]
- muscular dystrophy, emery-dreifuss [MeSH Descriptor]
- neurological disease other [ICPC-2 Rubric]
- ophthalmoplegia, chronic progressive external [MeSH Descriptor]
CISMeF manual mappings
- Facioscapulohumeral dystrophy [ORDO Disease]
- Hereditary progressive muscular dystrophy (disorder) [SNOMED CT concept]
- Oculopharyngeal muscular dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Facioscapulohumeral muscular dystrophy [MedDRA Preferred Term]
- Facioscapulohumeral muscular dystrophy [ICD-11 Subcategory]
- Facioscapulohumeral muscular dystrophy (disorder) [SNOMED CT concept]
- Facioscapulohumeral muscular dystrophy 1 [OMIM Phenotype]
- Limb-girdle muscular dystrophy [ORDO Disease]
- Limb-girdle muscular dystrophy [ICD-11 Subcategory]
- Limb-girdle muscular dystrophy [HPO term]
- MUSCULAR DYSTROPHY [WHO-ART Included Term]
- Muscular Dystrophy [NCIt concept]
- Muscular dystrophy [ORDO Disease]
- Muscular dystrophy [MedDRA Preferred Term]
- Muscular dystrophy [HPO term]
- Muscular dystrophy [PASCAL descriptor]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Muscular dystrophy [ICD-11 Category]
- Muscular dystrophy [HPMULTI term]
- Muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy NOS [MedDRA LLT]
- Muscular dystrophy with predominantly proximal limb girdle distribution (disorder) [SNOMED CT concept]
- Oculopharyngeal Muscular Dystrophy [NCIt concept]
- Oculopharyngeal muscular dystrophy [PASCAL descriptor]
- Oculopharyngeal muscular dystrophy (disorder) [SNOMED CT concept]
- Oculopharyngeal muscular dystrophy 1 [OMIM Phenotype]
- Scapuloperoneal muscular dystrophy [ICD-11 Subcategory]
- facioscapulohumeral muscular dystrophy [SNOMED Notion]
- facioscapulohumeral muscular dystrophy [DO Concept]
- muscular dystrophies [MeSH concept]
- muscular dystrophies [MeSH Descriptor]
- muscular dystrophies, Limb-Girdle [MeSH concept]
- muscular dystrophies, limb-girdle [MeSH Descriptor]
- muscular dystrophy [MedlinePlus Topic]
- muscular dystrophy [DO Concept]
- muscular dystrophy [Disease (Nov.)]
- muscular dystrophy [Artificial nutrition thesaurus concept]
- muscular dystrophy, facioscapulohumeral [MeSH concept]
- muscular dystrophy, facioscapulohumeral [MeSH Descriptor]
- muscular dystrophy, nos [SNOMED Notion]
- muscular dystrophy, oculopharyngeal [MeSH concept]
- muscular dystrophy, oculopharyngeal [MeSH Descriptor]
- oculopharyngeal muscular dystrophy [SNOMED Notion]
- oculopharyngeal muscular dystrophy [DO Concept]
DO Cross reference
- autosomal dominant Emery-Dreifuss muscular dystrophy 2 [DO Concept]
- autosomal dominant limb-girdle muscular dystrophy [DO Concept]
- autosomal dominant limb-girdle muscular dystrophy type 1 [DO Concept]
- autosomal dominant limb-girdle muscular dystrophy type 1H [DO Concept]
- autosomal dominant limb-girdle muscular dystrophy type 2 [DO Concept]
- autosomal dominant limb-girdle muscular dystrophy type 3 [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2A [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2B [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2C [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2D [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2E [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2F [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2G [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2H [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2I [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2J [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2K [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2L [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2M [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2N [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2O [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2P [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2Q [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2S [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2T [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2U [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2Y [DO Concept]
- muscular dystrophy [DO Concept]
- myofibrillar myopathy 1 [DO Concept]
- myofibrillar myopathy 3 [DO Concept]
ICD-10 exclusion(s)
- Congenital myopathies [ICD-10 Sub-category]
Manual NTBT mappings (CISMeF)
- Anoctamin-5-related limb-girdle muscular dystrophy R12 [ORDO Disease]
- Autosomal dominant limb-girdle muscular dystrophy [ORDO Disease]
- Autosomal recessive limb-girdle muscular dystrophy [ORDO Disease]
- Epidermolysis bullosa simplex with muscular dystrophy [ORDO Disease]
- Fukutin-related limb-girdle muscular dystrophy R13 [ORDO Disease]
- Oculopharyngodistal myopathy [ORDO Disease]
- POMGNT1-related limb-girdle muscular dystrophy R15 [ORDO Disease]
- POMT2-related limb-girdle muscular dystrophy R14 [ORDO Disease]
- Titin-related limb-girdle muscular dystrophy R10 [ORDO Disease]
Orphanet concepts
- Adenylosuccinate synthetase-like 1-related distal myopathy [ORDO Disease]
- Adult-onset distal myopathy due to VCP mutation [ORDO Disease]
- Alpha-B crystallin-related late-onset myopathy [ORDO Disease]
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 [ORDO Disease]
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 [ORDO Disease]
- Anoctamin-5-related limb-girdle muscular dystrophy R12 [ORDO Disease]
- Autosomal dominant Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Autosomal dominant distal myopathy [ORDO Disease]
- Autosomal dominant limb-girdle muscular dystrophy [ORDO Disease]
- Autosomal dominant limb-girdle muscular dystrophy type 1A [ORDO Disease]
- Autosomal dominant limb-girdle muscular dystrophy type 1B [ORDO Disease]
- Autosomal dominant limb-girdle muscular dystrophy type 1C [ORDO Disease]
- Autosomal dominant limb-girdle muscular dystrophy type 1E [ORDO Disease]
- Autosomal dominant limb-girdle muscular dystrophy type 1H [ORDO Disease]
- Autosomal recessive Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Autosomal recessive distal myopathy [ORDO Disease]
- Autosomal recessive limb-girdle muscular dystrophy [ORDO Disease]
- BVES-related limb-girdle muscular dystrophy [ORDO Disease]
- Becker muscular dystrophy [ORDO Disease]
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 [ORDO Disease]
- Bethlem myopathy [ORDO Disease]
- Calpain-3-related limb-girdle muscular dystrophy D4 [ORDO Disease]
- Calpain-3-related limb-girdle muscular dystrophy R1 [ORDO Disease]
- Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome [ORDO Disease]
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome [ORDO Disease]
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome [ORDO Disease]
- DNAJB6-related limb-girdle muscular dystrophy D1 [ORDO Disease]
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 [ORDO Disease]
- Distal anoctaminopathy [ORDO Disease]
- Distal myopathy [ORDO Disease]
- Distal myopathy with anterior tibial onset [ORDO Disease]
- Distal myopathy with early respiratory muscle involvement [ORDO Disease]
- Distal myopathy with posterior leg and anterior hand involvement [ORDO Disease]
- Distal myopathy, Tateyama type [ORDO Disease]
- Distal myopathy, Welander type [ORDO Disease]
- Distal nebulin myopathy [ORDO Disease]
- Duchenne and Becker muscular dystrophy [ORDO Disease]
- Duchenne muscular dystrophy [ORDO Disease]
- Dysferlin-related limb-girdle muscular dystrophy R2 [ORDO Disease]
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
- FKRP-related limb-girdle muscular dystrophy R9 [ORDO Disease]
- Facioscapulohumeral dystrophy [ORDO Disease]
- Finnish upper limb-onset distal myopathy [ORDO Disease]
- Fukutin-related limb-girdle muscular dystrophy R13 [ORDO Disease]
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 [ORDO Disease]
- Generalized congenital lipodystrophy with myopathy [ORDO Disease]
- HNRNPDL-related limb-girdle muscular dystrophy D3 [ORDO Disease]
- Hereditary myopathy with early respiratory failure [ORDO Disease]
- ISPD-related limb-girdle muscular dystrophy R20 [ORDO Disease]
- KLHL9-related early-onset distal myopathy [ORDO Disease]
- LIMS2-related limb-girdle muscular dystrophy [ORDO Disease]
- Laing early-onset distal myopathy [ORDO Disease]
- Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 [ORDO Disease]
- Limb-girdle muscular dystrophy [ORDO Disease]
- Limb-girdle muscular dystrophy due to POMK deficiency [ORDO Disease]
- MYH7-related late-onset scapuloperoneal muscular dystrophy [ORDO Disease]
- Miyoshi myopathy [ORDO Disease]
- Muscle-eye-brain disease [ORDO Disease]
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy [ORDO Disease]
- Muscular dystrophy [ORDO Disease]
- Oculogastrointestinal muscular dystrophy [ORDO Disease]
- Oculopharyngeal muscular dystrophy [ORDO Disease]
- Oculopharyngodistal myopathy [ORDO Disease]
- POGLUT1-related limb-girdle muscular dystrophy R21 [ORDO Disease]
- POMGNT1-related limb-girdle muscular dystrophy R15 [ORDO Disease]
- POMGNT2-related limb-girdle muscular dystrophy R24 [ORDO Disease]
- POMT1-related limb-girdle muscular dystrophy R11 [ORDO Disease]
- POMT2-related limb-girdle muscular dystrophy R14 [ORDO Disease]
- Plectin-related limb-girdle muscular dystrophy R17 [ORDO Disease]
- Progressive muscular dystrophy [ORDO Disease]
- Progressive scapulohumeroperoneal distal myopathy [ORDO Disease]
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers [ORDO Disease]
- TNP03-related limb-girdle muscular dystrophy D2 [ORDO Disease]
- TOR1AIP1-related limb-girdle muscular dystrophy [ORDO Disease]
- TRAPPC11-related limb-girdle muscular dystrophy R18 [ORDO Disease]
- TRIM32-related limb-girdle muscular dystrophy R8 [ORDO Disease]
- Telethonin-related limb-girdle muscular dystrophy R7 [ORDO Disease]
- Tibial muscular dystrophy [ORDO Disease]
- Titin-related limb-girdle muscular dystrophy R10 [ORDO Disease]
- Vocal cord and pharyngeal distal myopathy [ORDO Disease]
- Walker-Warburg syndrome [ORDO Disease]
- X-linked Emery-Dreifuss muscular dystrophy [ORDO Disease]
- X-linked myopathy with postural muscle atrophy [ORDO Disease]
- X-linked scapuloperoneal muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Duchenne muscular dystrophy [ICD-11 Subcategory]
- Limb-girdle muscular dystrophy [ICD-11 Subcategory]
- MUSCULAR DYSTROPHY [WHO-ART Included Term]
- Muscular Dystrophy [NCIt concept]
- Muscular dystrophy [MedDRA Preferred Term]
- Muscular dystrophy [HPO term]
- Muscular dystrophy [ORDO Disease]
- Muscular dystrophy [PASCAL descriptor]
- Muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy NOS [MedDRA LLT]
- Scapuloperoneal muscular dystrophy [ICD-11 Subcategory]
- hereditary progressive muscular dystrophy, nos [SNOMED Notion]
- muscular dystrophies [MeSH Descriptor]
- muscular dystrophies [MeSH concept]
- muscular dystrophy [MedlinePlus Topic]
- muscular dystrophy [DO Concept]
- muscular dystrophy [Disease (Nov.)]
- muscular dystrophy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Facioscapulohumeral Muscular Dystrophy [NCIt concept]
- Limb-Girdle Muscular Dystrophy [NCIt concept]
- Oculopharyngeal muscular dystrophy [ICD-11 More detail]
- Progressive muscular dystrophy [ORDO Disease]
- autosomal dominant limb-girdle muscular dystrophy [DO Concept]
- autosomal dominant limb-girdle muscular dystrophy type 1 [DO Concept]
- autosomal dominant limb-girdle muscular dystrophy type 1A [DO Concept]
- autosomal dominant limb-girdle muscular dystrophy type 1B [DO Concept]
- autosomal dominant limb-girdle muscular dystrophy type 1C [DO Concept]
- autosomal dominant limb-girdle muscular dystrophy type 1H [DO Concept]
- autosomal dominant limb-girdle muscular dystrophy type 2 [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2I [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2J [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2L [DO Concept]
- autosomal recessive limb-girdle muscular dystrophy type 2M [DO Concept]
- facioscapulohumeral muscular dystrophy [Disease (Nov.)]
- limb-girdle muscular dystrophy [DO Concept]
- oculopharyngeal muscular dystrophy [Disease (Nov.)]

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