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Myopathies, Nemaline (CUI C0206157) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0206157

Semantic Type: Disease or Syndrome

GARD Definition: Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Mutations in at least six genes can cause nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals. Nemaline myopathy is usually inherited in an autosomal recessive pattern. Less often, this condition is inherited in an autosomal dominant pattern.

Nemaline myopathy is divided into six types. You can search for information about a particular type of nemaline myopathy from the GARD Home page. Enter the name of the condition in the GARD search box and then select the type from the drop down menu.

- this information is from GARD/ORDR/NCATS.

MSH 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)

Synonyms & Abbreviations: (see Synonym Details)
Congenital rod disease
Myopathies, Nemaline [Disease/Finding]
Myopathies, Nemaline
Myopathies, Rod-Body
Myopathies, Rod
Myopathy, Nemaline
Myopathy, Rod Body
Myopathy, Rod-Body
Myopathy, Rod
Nemaline body disease
Nemaline Myopathies
Nemaline myopathy (disorder)
Nemaline myopathy
Nemaline rod disease
Nemaline rod myopathy
NEM
NM
Rod body disease
Rod Body Myopathy
Rod Myopathies
Rod myopathy
Rod-Body Myopathies
Rod-body myopathy

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID F3904 SNOMEDCT_US
DATE_CREATED 2014-01-08T00:03:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2014-01-08T00:03:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 23227 GARD
DISEASE_IDENTIFIER_ID 23228 GARD
DISEASE_IDENTIFIER_ID 23229 GARD
DISEASE_IDENTIFIER_ID 23230 GARD
DISEASE_IDENTIFIER_ID 23231 GARD
DISEASE_IDENTIFIER_ID 23232 GARD
DISEASE_IDENTIFIER_ID 23233 GARD
DISEASE_IDENTIFIER_ID 33418 GARD
DISEASE_IDENTIFIER_ID 33419 GARD
DX 19940101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HAS_GARD_PAGE true GARD
HN 2000(1994) MSH
IDENTIFIER_SOURCE GHR GARD
IDENTIFIER_SOURCE NOR GARD
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
MDA 19991108 MSH
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) NDFRT
MESH_DUI D017696 NDFRT
MESH_NAME Myopathies, Nemaline NDFRT
MESH_UI M0026760 NDFRT
MMR 20130708 MSH
MN C05.651.575.290 MSH
MN C10.668.491.550.290 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003625 NDFRT
PM 2000; see NEMALINE MYOPATHY 1994-1999 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/12033/nemaline-myopathy/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/4734/rod-myopathy/resources/1 GARD
RXAUI 3200954 RXNORM
RXAUI 3200955 RXNORM
RXAUI 3200979 RXNORM
RXAUI 3200982 RXNORM
RXAUI 3200984 RXNORM
RXAUI 3204839 RXNORM
RXAUI 3232572 RXNORM
RXAUI 3232577 RXNORM
RXAUI 5931770 RXNORM
RXAUI 5931771 RXNORM
RXAUI 5931772 RXNORM
RXAUI 5932179 RXNORM
RXCUI 1024251 RXNORM
SNOMED_CID 75072002 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G71.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G71.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G71.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G71.2 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F3904 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T052930 MSH
TERMUI T052932 MSH
TERMUI T365789 MSH
TERMUI T372778 MSH
TERMUI T372779 MSH
TERMUI T373392 MSH
TERMUI T373393 MSH
TERMUI T842114 MSH
TERMUI T842115 MSH
TERMUI T842116 MSH
TERMUI T842117 MSH
TH GHR (2014) MSH
TH NLM (1994) MSH
TH NLM (2000) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0206157

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