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Creutzfeldt-Jakob disease (CUI C0022336) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0022336

NCI Thesaurus Code: C26802  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.

GARD Definition: Creutzfeldt-Jakob disease (CJD) is a rare, degenerative, invariably fatal brain disorder. It affects about one person in every one million people per year worldwide. CJD usually appears in later life and runs a rapid course. Typically, onset of symptoms occurs about age 60, and about 90 percent of patients die within 1 year. In the early stages of disease, patients may have failing memory, behavioral changes, lack of coordination and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur.

CJD belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs). Spongiform refers to the characteristic appearance of infected brains, which become filled with holes until they resemble sponges under a microscope. CJD is the most common of the known human TSEs. Other human TSEs include kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS).

- this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. Symptoms usually start around age 60. Memory problems, behavior changes, vision problems, and poor muscle coordination progress quickly to dementia, coma, and death. Most patients die within a year.

The three main categories of CJD are

  • Sporadic CJD, which occurs for no known reason
  • Hereditary CJD, which runs in families
  • Acquired CJD, which occurs from contact with infected tissue, usually during a medical procedure

Cattle can get a disease related to CJD called bovine spongiform encephalopathy (BSE) or "mad cow disease." There is concern that people can get a variant of CJD from eating beef from an infected animal, but there is no direct proof to support this.

NIH: National Institute of Neurological Disorders and Stroke

NICHD Definition: A prion disease of humans that is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Three recognized forms are sporadic, familial, and iatrogenic. The iatrogenic form occurs through direct contact with human tissue, a product derived from human tissue, or contaminated medical equipment.

MSH Definition: A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))

Synonyms & Abbreviations: (see Synonym Details)
CJ disease
CJD (Creutzfeldt Jakob disease)
CJD (Creutzfeldt-Jakob Disease)
CJD - Creutzfeldt-Jakob disease
CJD CREUTZFELDT JAKOB DIS
CJD
Classic Creutzfeldt-Jakob Disease
Creutzfeld-Jacob disease
Creutzfeld-Jakob disease
Creutzfeldt Jacob disease
Creutzfeldt Jakob disease
CREUTZFELDT JAKOB DIS
Creutzfeldt Jakob Syndrome
Creutzfeldt-Jacob disease
Creutzfeldt-Jakob disease, unspecified
CREUTZFELDT-JAKOB DISEASE
Creutzfeldt-Jakob Syndrome [Disease/Finding]
Creutzfeldt-Jakob Syndrome
Creutzfeldt-Jakob's disease
Disease, Creutzfeldt Jacob
Disease, Creutzfeldt-Jakob
Disease, Jakob-Creutzfeldt
Encephalopathies, Subacute Spongiform
Encephalopathy, Subacute Spongiform
Jacob Disease, Creutzfeldt
Jacob-Creutzfeld disease
Jakob Creutzfeldt Disease
JAKOB CREUTZFELDT DIS
Jakob Creutzfeldt Syndrome
Jakob-Creutzfeldt disease (disorder)
Jakob-Creutzfeldt disease, unspecified
JAKOB-CREUTZFELDT DISEASE
Jakob-Creutzfeldt Syndrome
JCD - Jakob-Creutzfeldt disease
SPONGIFORM ENCEPH SUBACUTE
Spongiform Encephalopathies, Subacute
SPONGIFORM ENCEPHALOPATHY SUBACUTE
Spongiform Encephalopathy, Subacute
Subacute Spongiform Encephalopathies
Subacute Spongiform Encephalopathy
Syndrome, Creutzfeldt-Jakob
Syndrome, Jakob-Creutzfeldt
Transmissible virus dementia

External Source Codes: 
NCI Thesaurus Code C26802 (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 TM UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID A411. SNOMEDCT_US
DATE_CREATED 08/24/2000 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DID 2042-5006 CSP
DISEASE_IDENTIFIER_ID 4571 GARD
DISEASE_IDENTIFIER_ID 4572 GARD
DISEASE_IDENTIFIER_ID 4573 GARD
DISEASE_IDENTIFIER_ID 4574 GARD
DX 19730101 MSH
EFFECTIVE_TIME 20020731 SNOMEDCT_US
GENELOCUS ,6,p,2,1,.,3, OMIM
GENESYMBOL CELIAC1 OMIM
GENESYMBOL HLA-DQB1 OMIM
HAS_GARD_PAGE true GARD
HN 1991; use JAKOB-CREUTZFELDT SYNDROME 1981-1990, use CREUTZFELDT-JAKOB DISEASE 1969-1980 MSH
IAN DEFAULT ICD10
ICA Use additional code to identify dementia: with behavioral disturbance (294.11); without behavioral disturbance (294.10) ICD9CM
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Subacute spongiform encephalopathy ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27)) NDFRT
MESH_DUI D007562 NDFRT
MESH_NAME Creutzfeldt-Jakob Syndrome NDFRT
MESH_UI M0011818 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150603 MSH
MN C10.228.140.380.165 MSH
MN C10.228.228.800.230 MSH
MN F03.615.400.300 MSH
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/creutzfeldtjakobdisease.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/creutzfeldtjakobdisease.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Classic Creutzfeldt-Jakob Disease NCI
NUI N0000001713 NDFRT
ORDER_NO 00602 ICD10CM
ORDER_NO 00603 ICD10CM
PM 1991; see JAKOB-CREUTZFELDT SYNDROME 1981-1990, see CREUTZFELDT-JAKOB DISEASE 1973-1980 MSH
PRIMARY_PATH 10011384$10036760$10047438$10021881$Creutzfeldt-Jakob disease$Prion-associated disorders$Viral infectious disorders$Infections and infestations MDR
PRIMARY_SOC 10021881 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/6956/creutzfeldt-jakob-disease/resources/1 GARD
RXAUI 3125639 RXNORM
RXAUI 3136190 RXNORM
RXAUI 3136194 RXNORM
RXAUI 3136195 RXNORM
RXAUI 3183554 RXNORM
RXAUI 3183555 RXNORM
RXAUI 3239954 RXNORM
RXAUI 3287018 RXNORM
RXCUI 1025507 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 13.1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 792004 NDFRT
SOS Generalized cortical atrophy from unknown causes. AOD
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS A81.0 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~A81.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS A81.00 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF FAMILIAL CREUTZFELDT-JAKOB CHOOSE A81.09 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF IATROGENIC JAKOB-CREUTZFELDT DISEASE CHOOSE A81.09 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF SPORADIC CREUTZFELDT-JAKOB DISEASE CHOOSE A81.09 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 713060000 | Sporadic Creutzfeldt-Jakob disease | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 715662009 | Iatrogenic Jakob-Creutzfeldt disease | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 715807002 | Familial Creutzfeldt-Jakob | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~A81.00 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~A81.09 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~A411. 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 T022729 MSH
TERMUI T022730 MSH
TERMUI T022731 MSH
TERMUI T022732 MSH
TERMUI T367204 MSH
TERMUI T367205 MSH
TERMUI T752045 MSH
TH NLM (1969) MSH
TH NLM (1991) MSH
TH NLM (2000) MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) 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=C0022336

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