inclusion body myopathy with Early-Onset paget disease and frontotemporal dementia

Preferred Label : inclusion body myopathy with Early-Onset paget disease and frontotemporal dementia;

MeSH note : mutation in valosin-containing protein;

MeSH synonym : IBMPFD; pagetoid amyotrophic lateral sclerosis; pagetoid neuroskeletal syndrome; lower motor neuron degeneration with Paget-Like bone disease; muscular dystrophy, Limb-Girdle, with paget disease of bone; inclusion body myopathy with paget disease of bone and-or frontotemporal dementia; inclusion body myopathy with Early-Onset paget disease of bone and-or frontotemporal dementia;

Détails

Origin ID

C563476;

UMLS CUI

C1833662;

CISMeF manual mappings
- inclusion body myopathy with Paget disease and frontotemporal dementia [Disease (Nov.)]
Currated CISMeF NLP mapping
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [ORDO Disease]
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) [SNOMED CT concept]
- Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 [OMIM Phenotype]
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DO Concept]
MeSH term(s) associated for indexing
- frontotemporal dementia [MeSH Descriptor]
- muscular dystrophies, limb-girdle [MeSH Descriptor]
- myositis, inclusion body [MeSH Descriptor]
- osteitis deformans [MeSH Descriptor]
Record concept(s)
- inclusion body myopathy with Early-Onset paget disease and frontotemporal dementia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [ORDO Disease]
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) [SNOMED CT concept]
- Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 [OMIM Phenotype]
- inclusion body myopathy with Paget disease and frontotemporal dementia [Disease (Nov.)]
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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