Hereditary motor and sensory neuropathy

Preferred Label : Hereditary motor and sensory neuropathy;

Inclusion CIM-10 : Hereditary motor and sensory neuropathy, types I-IV; Roussy-Levy syndrome; Charcot-Marie-Tooth disease; Hypertrophic neuropathy of infancy; Déjérine-Sottas disease; Peroneal muscular atrophy (axonal type) (hypertrophic type);

Diag associé à un acte (%) : 69.3;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

G600;

UMLS CUI

C0027888;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 4 [DO Concept]
- Dejerine-Sottas syndrome [ORDO Disease]
- Dejerine-Sottas syndrome [ICD-11 More detail]
- Déjérine-Sottas disease (disorder) [SNOMED CT concept]
- Hereditary areflexic dystasia [MedDRA Preferred Term]
- Roussy-Levy syndrome [ICD-11 More detail]
- motor peripheral neuropathy [DO Concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth Disease [NCIt concept]
- Charcot-Marie-Tooth disease [MeSH concept]
- Charcot-Marie-Tooth disease [MedDRA LLT]
- Charcot-Marie-Tooth disease [Radlex concept]
- Charcot-Marie-Tooth disease [DO Concept]
- Charcot-Marie-Tooth disease (disorder) [Inactive SNOMED CT concept]
- Charcot-marie-tooth disease [OMIM phenotypic series]
- Hereditary motor and sensory neuropathy [ORDO Disease]
- Hereditary motor and sensory neuropathy [ICD-10 Sub-category (who)]
- Hereditary motor and sensory neuropathy [ICD-11 Category]
- Hereditary motor and sensory neuropathy [MedDRA Preferred Term]
- Hereditary motor and sensory neuropathy (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy [ORDO Disease]
- Hereditary sensory and autonomic neuropathy (disorder) [SNOMED CT concept]
- Hereditary sensory or autonomic neuropathy [ICD-11 Category]
- Roussy-Levy syndrome [MeSH concept]
- Roussy-Levy syndrome [MedDRA LLT]
- Roussy-Lévy syndrome [ORDO Disease]
- Roussy-Lévy syndrome (disorder) [SNOMED CT concept]
- Roussy-levy hereditary areflexic dystasia [OMIM Phenotype]
- charcot-marie-tooth disease [MeSH Descriptor]
- charcot-marie-tooth disease [MedlinePlus Topic]
- hereditary motor sensory neuropathy [Disease (Nov.)]
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
- hereditary sensory and autonomic neuropathies [MeSH concept]
- hereditary sensory and motor neuropathy [MeSH Descriptor]
- hereditary sensory and motor neuropathy [MeSH concept]
- roussy-levy syndrome [SNOMED Notion]
DO Cross reference
- Charcot-Marie-Tooth disease [DO Concept]
- Charcot-Marie-Tooth disease X-linked dominant 1 [DO Concept]
- Charcot-Marie-Tooth disease X-linked dominant 6 [DO Concept]
- Charcot-Marie-Tooth disease X-linked recessive 2 [DO Concept]
- Charcot-Marie-Tooth disease X-linked recessive 3 [DO Concept]
- Charcot-Marie-Tooth disease X-linked recessive 4 [DO Concept]
- Charcot-Marie-Tooth disease X-linked recessive 5 [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2C [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2F [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2H [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2K [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2L [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2N [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2O [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2P [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2Q [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2T [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2U [DO Concept]
- Charcot-Marie-Tooth disease dominant intermediate A [DO Concept]
- Charcot-Marie-Tooth disease dominant intermediate B [DO Concept]
- Charcot-Marie-Tooth disease dominant intermediate C [DO Concept]
- Charcot-Marie-Tooth disease dominant intermediate D [DO Concept]
- Charcot-Marie-Tooth disease dominant intermediate E [DO Concept]
- Charcot-Marie-Tooth disease dominant intermediate F [DO Concept]
- Charcot-Marie-Tooth disease recessive intermediate B [DO Concept]
- Charcot-Marie-Tooth disease recessive intermediate C [DO Concept]
- Charcot-Marie-Tooth disease recessive intermediate D [DO Concept]
- Charcot-Marie-Tooth disease type 1A [DO Concept]
- Charcot-Marie-Tooth disease type 1B [DO Concept]
- Charcot-Marie-Tooth disease type 1C [DO Concept]
- Charcot-Marie-Tooth disease type 1D [DO Concept]
- Charcot-Marie-Tooth disease type 1E [DO Concept]
- Charcot-Marie-Tooth disease type 1F [DO Concept]
- Charcot-Marie-Tooth disease type 2A1 [DO Concept]
- Charcot-Marie-Tooth disease type 2A2A [DO Concept]
- Charcot-Marie-Tooth disease type 2B [DO Concept]
- Charcot-Marie-Tooth disease type 2B1 [DO Concept]
- Charcot-Marie-Tooth disease type 2B2 [DO Concept]
- Charcot-Marie-Tooth disease type 2D [DO Concept]
- Charcot-Marie-Tooth disease type 2E [DO Concept]
- Charcot-Marie-Tooth disease type 2I [DO Concept]
- Charcot-Marie-Tooth disease type 2J [DO Concept]
- Charcot-Marie-Tooth disease type 2R [DO Concept]
- Charcot-Marie-Tooth disease type 2Y [DO Concept]
- Charcot-Marie-Tooth disease type 4A [DO Concept]
- Charcot-Marie-Tooth disease type 4B1 [DO Concept]
- Charcot-Marie-Tooth disease type 4B2 [DO Concept]
- Charcot-Marie-Tooth disease type 4B3 [DO Concept]
- Charcot-Marie-Tooth disease type 4C [DO Concept]
- Charcot-Marie-Tooth disease type 4D [DO Concept]
- Charcot-Marie-Tooth disease type 4E [DO Concept]
- Charcot-Marie-Tooth disease type 4F [DO Concept]
- Charcot-Marie-Tooth disease type 4G [DO Concept]
- Charcot-Marie-Tooth disease type 4H [DO Concept]
- Charcot-Marie-Tooth disease type 4J [DO Concept]
- Charcot-Marie-Tooth disease type 4K [DO Concept]
- agenesis of the corpus callosum with peripheral neuropathy [DO Concept]
- motor peripheral neuropathy [DO Concept]
Manual NTBT mappings (CISMeF)
- Autosomal dominant Charcot-Marie-Tooth disease type 2 [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease [ORDO Disease]
- Autosomal recessive axonal hereditary motor and sensory neuropathy [ORDO Disease]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
- Charcot-Marie-Tooth disease type 4 [ORDO Disease]
- Charcot-Marie-Tooth disease type 4F [ORDO Disease]
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome [ORDO Disease]
- Distal hereditary motor neuropathy [ORDO Disease]
- Hereditary motor and sensory neuropathy with acrodystrophy [ORDO Disease]
- Severe early-onset axonal neuropathy due to MFN2 deficiency [ORDO Disease]
Orphanet concepts
- Autosomal dominant Charcot-Marie-Tooth disease type 2 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2B [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2C [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2D [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2E [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2F [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2G [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2I [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2J [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2K [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2L [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2M [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2N [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2O [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2Q [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2U [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2V [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2W [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z [ORDO Disease]
- Autosomal dominant hereditary axonal motor and sensory neuropathy [ORDO Disease]
- Autosomal dominant hereditary demyelinating motor and sensory neuropathy [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type F [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain [ORDO Disease]
- Autosomal dominant slowed nerve conduction velocity [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease type 2X [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ORDO Disease]
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect [ORDO Disease]
- Autosomal recessive axonal hereditary motor and sensory neuropathy [ORDO Disease]
- Autosomal recessive axonal neuropathy with neuromyotonia [ORDO Disease]
- Autosomal recessive hereditary demyelinating motor and sensory neuropathy [ORDO Disease]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease [ORDO Disease]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type C [ORDO Disease]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D [ORDO Disease]
- Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy [ORDO Disease]
- Cervical hypertrichosis-peripheral neuropathy syndrome [ORDO Disease]
- Charcot-Marie-Tooth disease type 1 [ORDO Disease]
- Charcot-Marie-Tooth disease type 1A [ORDO Disease]
- Charcot-Marie-Tooth disease type 1B [ORDO Disease]
- Charcot-Marie-Tooth disease type 1C [ORDO Disease]
- Charcot-Marie-Tooth disease type 1D [ORDO Disease]
- Charcot-Marie-Tooth disease type 1E [ORDO Disease]
- Charcot-Marie-Tooth disease type 1F [ORDO Disease]
- Charcot-Marie-Tooth disease type 2B1 [ORDO Disease]
- Charcot-Marie-Tooth disease type 2B2 [ORDO Disease]
- Charcot-Marie-Tooth disease type 2B5 [ORDO Disease]
- Charcot-Marie-Tooth disease type 2H [ORDO Disease]
- Charcot-Marie-Tooth disease type 2P [ORDO Disease]
- Charcot-Marie-Tooth disease type 2R [ORDO Disease]
- Charcot-Marie-Tooth disease type 2S [ORDO Disease]
- Charcot-Marie-Tooth disease type 2T [ORDO Disease]
- Charcot-Marie-Tooth disease type 4 [ORDO Disease]
- Charcot-Marie-Tooth disease type 4A [ORDO Disease]
- Charcot-Marie-Tooth disease type 4B1 [ORDO Disease]
- Charcot-Marie-Tooth disease type 4B2 [ORDO Disease]
- Charcot-Marie-Tooth disease type 4B3 [ORDO Disease]
- Charcot-Marie-Tooth disease type 4C [ORDO Disease]
- Charcot-Marie-Tooth disease type 4D [ORDO Disease]
- Charcot-Marie-Tooth disease type 4E [ORDO Disease]
- Charcot-Marie-Tooth disease type 4F [ORDO Disease]
- Charcot-Marie-Tooth disease type 4G [ORDO Disease]
- Charcot-Marie-Tooth disease type 4H [ORDO Disease]
- Charcot-Marie-Tooth disease type 4J [ORDO Disease]
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome [ORDO Disease]
- Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy [ORDO Disease]
- Congenital axonal neuropathy with encephalopathy [ORDO Disease]
- Corpus callosum agenesis-neuronopathy syndrome [ORDO Disease]
- DNAJB2-related Charcot-Marie-Tooth disease type 2 [ORDO Disease]
- Dejerine-Sottas syndrome [ORDO Disease]
- Facial onset sensory and motor neuronopathy [ORDO Disease]
- Hereditary motor and sensory neuropathy [ORDO Disease]
- Hereditary motor and sensory neuropathy type 5 [ORDO Disease]
- Hereditary motor and sensory neuropathy type 6 [ORDO Disease]
- Hereditary motor and sensory neuropathy with acrodystrophy [ORDO Disease]
- Hereditary motor and sensory neuropathy, Okinawa type [ORDO Disease]
- Hereditary neuropathy with liability to pressure palsies [ORDO Disease]
- Hereditary sensorimotor neuropathy with hyperelastic skin [ORDO Disease]
- Hereditary thermosensitive neuropathy [ORDO Disease]
- Microcephaly-complex motor and sensory axonal neuropathy syndrome [ORDO Disease]
- PMP2-related Charcot-Marie-Tooth disease type 1 [ORDO Disease]
- Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome [ORDO Disease]
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [ORDO Disease]
- Roussy-Lévy syndrome [ORDO Disease]
- SURF1-related Charcot-Marie-Tooth disease type 4 [ORDO Disease]
- Severe early-onset axonal neuropathy due to MFN2 deficiency [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 1 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 2 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 3 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 4 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 5 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 6 [ORDO Disease]
- X-linked recessive hereditary axonal motor and sensory neuropathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary motor and sensory neuropathy [ORDO Disease]
- Hereditary motor and sensory neuropathy [MedDRA Preferred Term]
- Hereditary motor and sensory neuropathy (disorder) [SNOMED CT concept]
- Neuropathic muscular atrophy [MedDRA Preferred Term]
- hereditary sensory and motor neuropathy [MeSH Descriptor]
- hereditary sensory and motor neuropathy [MeSH concept]
- motor peripheral neuropathy [DO Concept]
Validated automatic mappings to BTNT
- Charcot Marie Tooth disease [Disease (Nov.)]
- Charcot-Marie-Tooth disease X-linked dominant 6 [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2C [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2O [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2P [DO Concept]
- Charcot-Marie-Tooth disease axonal type 2T [DO Concept]
- Charcot-Marie-Tooth disease dominant intermediate E [DO Concept]
- Charcot-Marie-Tooth disease type 1E [DO Concept]
- Charcot-Marie-Tooth disease type 4F [DO Concept]
- Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy [ORDO Disease]
- Hereditary motor and sensory neuropathy type 6 [ORDO Disease]
- Hereditary motor and sensory neuropathy, Okinawa type [ORDO Disease]
- Intermediate Charcot-Marie-Tooth disease [ICD-11 Subcategory]
- X-linked Charcot-Marie-Tooth disease [ORDO Disease]

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