myopathies, nemaline

Preferred Label : myopathies, nemaline;

MeSH definition : A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453);

MeSH synonym : myopathies, rod; rod-body myopathies; myopathy, rod-body; rod body myopathy; myopathy, nemaline; nemaline myopathy; nemaline myopathies; myopathy, rod body; myopathy, rod; rod myopathy; rod myopathies; rod-body myopathy; myopathies, rod-body; nemaline body disease; nemaline rod disease; rod body disease;

MeSH hyponym : nemaline myopathy, late onset; nemaline myopathy, autosomal recessive; adult onset nemaline myopathy; nemaline myopathy, autosomal dominant; nemaline myopathy, childhood onset; Autosomal Dominant Nemaline Myopathy; Childhood Onset Nemaline Myopathy; Late Onset Nemaline Myopathy; Nemaline Myopathy, Adult Onset; Autosomal Recessive Nemaline Myopathy;

Wikipedia link : https://en.wikipedia.org/wiki/Myopathies, nemaline;

Details

Origin ID

D017696;

UMLS CUI

C0206157;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Hereditary disorder of musculoskeletal system (disorder) [SNOMED CT concept]
- Nemaline myopathy [PASCAL descriptor]
- Nemaline myopathy [Disease (Nov.)]
- Nemaline myopathy [ICD-11 Sub-sub category]
- Nemaline myopathy [ORDO Disease]
- Nemaline myopathy (disorder) [SNOMED CT concept]
- nemaline myopathy [DO Concept]
- nemaline myopathy [SNOMED Notion]
DO Cross reference
- nemaline myopathy [DO Concept]
False automatic mappings
- Manganese [LOINC component]
- Manganese [MedDRA Preferred Term]
- manganese, nos [SNOMED Notion]
Manual BTNT mappings - CISMeF
- Amish nemaline myopathy [ORDO Disease]
- Childhood-onset nemaline myopathy [ORDO Disease]
- Intermediate nemaline myopathy [ORDO Disease]
- Severe congenital nemaline myopathy [ORDO Disease]
- Typical nemaline myopathy [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Congenital myopathy with protein accumulation [ORDO Disease]
- Qualitative or quantitative defects of alpha-actin [ORDO Disease]
- Qualitative or quantitative defects of nebulin [ORDO Disease]
ORDO relation(s)
- Nemaline myopathy [ORDO Disease]
Record concept(s)
- adult onset nemaline myopathy [MeSH concept]
- myopathies, nemaline [MeSH concept]
- nemaline myopathy, autosomal dominant [MeSH concept]
- nemaline myopathy, autosomal recessive [MeSH concept]
- nemaline myopathy, childhood onset [MeSH concept]
- nemaline myopathy, late onset [MeSH concept]
Related MeSH Supplementary Concept(s)
- cardioneuromyopathy with hyaline masses and nemaline rods [MeSH Supplementary Concept]
- intranuclear rod myopathy [MeSH Supplementary Concept]
- myopathy, actin, congenital, with excess of thin myofilaments [MeSH Supplementary Concept]
- nemaline myopathy 1 [MeSH Supplementary Concept]
- nemaline myopathy 2 [MeSH Supplementary Concept]
- nemaline myopathy 4 [MeSH Supplementary Concept]
- nemaline myopathy 5 [MeSH Supplementary Concept]
- nemaline myopathy 6 [MeSH Supplementary Concept]
- nemaline myopathy 7 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Centronuclear myopathy [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nemaline myopathy [ORDO Disease]
- Nemaline myopathy [PASCAL descriptor]
- Nemaline myopathy [Disease (Nov.)]
- Nemaline myopathy [ICD-11 Sub-sub category]
- Nemaline myopathy (disorder) [SNOMED CT concept]
- nemaline myopathy [SNOMED Notion]
- nemaline myopathy [DO Concept]
Validated automatic mappings to BTNT
- Adult-onset nemaline myopathy [ICD-11 More detail]

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