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NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
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Mitochondrial Diseases (CUI C0751651) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0751651

Semantic Type: Disease or Syndrome

CSP Definition: diseases caused by abnormal function of the mitochondria; may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components; may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.

MSH Definition: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.

Synonyms & Abbreviations: (see Synonym Details)
Disease, Mitochondrial
Disorder, Mitochondrial
Disorders, Mitochondrial
mitochondrial disease/disorder
Mitochondrial Diseases [Disease/Finding]
Mitochondrial Diseases
mitochondrial disease
Mitochondrial Disorders
mitochondrial disorder
MITOCHONDRIAL DIS

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
AN GEN or unspecified; prefer specifics MSH
AQL BL CF CI CL CN 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
DC 1 MSH
DID 5000-0048 CSP
DX 20020101 MSH
HN 2002; use MITOCHONDRIAL MYOPATHIES 2000-2001 MSH
MDA 20010803 MSH
MESH_DEFINITION Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. NDFRT
MESH_DUI D028361 NDFRT
MESH_NAME Mitochondrial Diseases NDFRT
MESH_UI M0335637 NDFRT
MN C18.452.660 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000010931 NDFRT
PM 2002; see MITOCHONDRIAL MYOPATHIES 2000-2001 MSH
RXAUI 3199054 RXNORM
RXAUI 3199055 RXNORM
RXAUI 3199057 RXNORM
RXCUI 1025798 RXNORM
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T369289 MSH
TERMUI T369290 MSH
TH NLM (2000) MSH
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=C0751651

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