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;
Origin ID : D017696;
UMLS CUI : C0206157;
Allowable qualifiers
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Manual BTNT mappings - CISMeF
Manual NTBT mappings (CISMeF)
ORDO relation(s)
Record concept(s)
Related MeSH Supplementary Concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT
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)
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