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Muscular Dystrophy, Duchenne (CUI C0013264) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0013264

NCI Thesaurus Code: C75482  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

GARD Definition: Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by a mutation in a gene, called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne mucular dystrophy is inherited in an X-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. In addition to the skeletal muscles used for movement, DMD may also affect the muscles of the heart.   There is no known cure for Duchenne muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life.

- this information is from GARD/ORDR/NCATS.

MSH Definition: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

CSP Definition: X-linked recessive muscle disease caused by an inability to synthesize dystrophin, which is involved with maintaining the integrity of the sarcolemma; muscle fibers undergo a process that features degeneration and regeneration; clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy and an increased incidence of impaired mentation; Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course.

Synonyms & Abbreviations: (see Synonym Details)
Cardiomyopathy, Dilated, 3B
Cardiomyopathy, Dilated, X-Linked
Childhood Muscular Dystrophy, Pseudohypertrophic
Childhood Pseudohypertrophic Muscular Dystrophy
DMD - Duchenne muscular dystrophy
DMD
Duchenne muscular dystrophy (disorder)
Duchenne muscular dystrophy
Duchenne Type Progressive Muscular Dystrophy
Duchenne's Muscular Dystrophy
Duchenne-Type Progressive Muscular Dystrophy
Muscular Dystrophy, Childhood, Pseudohypertrophic
Muscular Dystrophy, Duchenne [Disease/Finding]
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Duchenne
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, CHILDHOOD
Muscular Dystrophy, Pseudohypertrophic
Progressive Muscular Dystrophy, Duchenne Type
Pseudohypertrophic Childhood Muscular Dystrophy
Pseudohypertrophic Muscular Dystrophy, Childhood
Pseudohypertrophic Muscular Dystrophy

External Source Codes: 
NCI Thesaurus Code C75482 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID F3910 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 5006-0010 CSP
DISEASE_IDENTIFIER_ID 18154 GARD
DISEASE_IDENTIFIER_ID 18155 GARD
DISEASE_IDENTIFIER_ID 18156 GARD
DX 20000101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D016189 MSH
GENELOCUS ,X,p,2,1,.,2, OMIM
GENESYMBOL BMD OMIM
GENESYMBOL CMD3B OMIM
GENESYMBOL DMD OMIM
HAS_GARD_PAGE true GARD
HN 2000; use MUSCULAR DYSTROPHIES 1980-1999; for MUSCULAR DYSTROPHY, BECKER & BECKER MUSCULAR DYSTROPHY use MUSCULAR DYSTROPHIES 1991-1999 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2007-01-19T00:00:00 GARD
MDA 19991108 MSH
MESH_DEFINITION An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415) NDFRT
MESH_DUI D020388 NDFRT
MESH_NAME Muscular Dystrophy, Duchenne NDFRT
MESH_UI M0014253 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C05.651.534.500.300 MSH
MN C10.668.491.175.500.300 MSH
MN C16.320.322.562 MSH
MN C16.320.577.300 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000004131 NDFRT
PM 2000; see MUSCULAR DYSTROPHIES 1980-1999; for MUSCULAR DYSTROPHY, BECKER & BECKER MUSCULAR DYSTROPHY see MUSCULAR DYSTROPHIES 1991-1999 MSH
PRIMARY_PATH 10013801$10029512$10028396$10010331$Duchenne muscular dystrophy$Non-site specific muscle disorders congenital$Musculoskeletal and connective tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6291/duchenne-muscular-dystrophy/resources/1 GARD
RXAUI 3132357 RXNORM
RXAUI 3132369 RXNORM
RXAUI 3149227 RXNORM
RXAUI 3149229 RXNORM
RXAUI 3200367 RXNORM
RXAUI 3200369 RXNORM
RXAUI 3200370 RXNORM
RXAUI 3200386 RXNORM
RXAUI 3200387 RXNORM
RXAUI 3223943 RXNORM
RXAUI 3225743 RXNORM
RXAUI 3225746 RXNORM
RXAUI 3606120 RXNORM
RXAUI 5039054 RXNORM
RXAUI 5039655 RXNORM
RXAUI 5930510 RXNORM
RXCUI 990693 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 76670001 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G71.0 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~G71.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G71.0 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~G71.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F3910 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 T027305 MSH
TERMUI T369183 MSH
TERMUI T369184 MSH
TERMUI T369186 MSH
TERMUI T369187 MSH
TERMUI T369188 MSH
TERMUI T369189 MSH
TERMUI T369190 MSH
TERMUI T369191 MSH
TERMUI T369192 MSH
TERMUI T369193 MSH
TERMUI T769901 MSH
TERMUI T811506 MSH
TERMUI T811507 MSH
TERMUI T845656 MSH
TH BIOETHICS (1989) MSH
TH GHR (2014) MSH
TH NLM (2000) MSH
TH NLM (2011) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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