steinert myotonic dystrophy syndrome - CISMeF

CISMeF

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Steinert myotonic dystrophy syndromeSNOMED Notion

Preferred Label : steinert myotonic dystrophy syndrome;

Détails

Origin ID

D4-00621;

UMLS CUI

C0027126;

Currated CISMeF NLP mapping
- Dystrophia Myotonica 1 [NCIt concept]
- Dystrophia myotonica [MedDRA LLT]
- Myotonic Dystrophy [NCIt concept]
- Myotonic dystrophy [MedDRA Preferred Term]
- Myotonic dystrophy [PASCAL descriptor]
- Myotonic dystrophy [ORDO Disease]
- Myotonic dystrophy (disorder) [SNOMED CT concept]
- Myotonic dystrophy 1 [OMIM Phenotype]
- Myotonic muscular dystrophy [ICD-9 code]
- Steinert disease [MedDRA LLT]
- Steinert myotonic dystrophy [ORDO Disease]
- Steinert myotonic dystrophy syndrome (disorder) [SNOMED CT concept]
- myotonic dystrophy [Disease (Nov.)]
- myotonic dystrophy [MeSH concept]
- myotonic dystrophy [MeSH Descriptor]
- myotonic dystrophy type 1 [Disease (Nov.)]
- myotonic dystrophy type 1 [DO Concept]
Décrit
- dilated cardiomyopathy secondary to myotonic dystrophy [SNOMED Notion]
ICD-10 exact mapping(s)
- Myotonic disorders [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Myotonic dystrophy type 3 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease [ORDO Disease]
- Musculoskeletal disease with cataract [ORDO Disease]
- Myasthenic syndrome with eye involvement [ORDO Disease]
- Myotonic syndrome [ORDO Disease]
- Pattern dystrophy [ORDO Disease]
- Progressive muscular dystrophy [ORDO Disease]
- Sucking/swallowing disorder associated with a neuromuscular disease [ORDO Disease]
- Tauopathy with a major tau at 60 kDa [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Steinert myotonic dystrophy syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystrophia myotonica [MedDRA LLT]
- Myotonic Dystrophy [NCIt concept]
- Myotonic dystrophy [MedDRA Preferred Term]
- Myotonic dystrophy [ORDO Disease]
- Myotonic dystrophy [PASCAL descriptor]
- Myotonic dystrophy (disorder) [SNOMED CT concept]
- Myotonic muscular dystrophy [ICD-9 code]
- Steinert disease [MedDRA LLT]
- Steinert myotonic dystrophy syndrome (disorder) [SNOMED CT concept]
- myotonic dystrophy [MeSH Descriptor]
- myotonic dystrophy [MeSH concept]
- myotonic dystrophy [Disease (Nov.)]
- myotonic dystrophy type 1 [DO Concept]

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27/07/2025

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