loading...| Preferred Name |
Creutzfeldt-Jakob Syndrome |
|
| Synonyms |
New Variant Creutzfeldt Jakob Disease |
|
| Definitions |
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)) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D007562 |
|
| altLabel |
New Variant Creutzfeldt Jakob Disease CJD (Creutzfeldt-Jakob Disease) Creutzfeldt-Jakob Disease, New Variant Jakob-Creutzfeldt Syndrome Disease, Creutzfeldt Jacob Jacob Disease, Creutzfeldt Familial Creutzfeldt-Jakob Disease Jakob Creutzfeldt Syndrome Creutzfeldt-Jakob Disease, Familial Creutzfeldt Jakob Disease, Variant Jakob Creutzfeldt Disease Creutzfeldt Jakob Disease, Familial Encephalopathy, Subacute Spongiform Encephalopathies, Subacute Spongiform Spongiform Encephalopathies, Subacute Creutzfeldt-Jakob Disease, Variant Creutzfeldt-Jakob Disease Creutzfeldt Jakob Disease Familial Creutzfeldt Jakob Disease Jakob-Creutzfeldt Disease Creutzfeldt Jacob Disease Subacute Spongiform Encephalopathies Creutzfeldt Jakob Syndrome CJD (Creutzfeldt Jakob Disease) V CJD (Variant Creutzfeldt Jakob Disease) Familial Creutzfeldt-Jakob Diseases Spongiform Encephalopathy, Subacute Disease, Jakob-Creutzfeldt New Variant Creutzfeldt-Jakob Disease Creutzfeldt Jakob Disease, New Variant Disease, Familial Creutzfeldt-Jakob Variant Creutzfeldt-Jakob Disease Syndrome, Creutzfeldt-Jakob Creutzfeldt-Jakob Diseases, Familial Syndrome, Jakob-Creutzfeldt Subacute Spongiform Encephalopathy V-CJD (Variant-Creutzfeldt-Jakob Disease) Disease, Creutzfeldt-Jakob Variant Creutzfeldt Jakob Disease |
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| 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 |
|
| cui |
C0376329 C0022336 C0751254 |
|
| DC |
1 |
|
| 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)) |
|
| DX |
19730101 |
|
| HN |
1991; use JAKOB-CREUTZFELDT SYNDROME 1981-1990, use CREUTZFELDT-JAKOB DISEASE 1969-1980 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000635 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
1991; see JAKOB-CREUTZFELDT SYNDROME 1981-1990, see CREUTZFELDT-JAKOB DISEASE 1973-1980 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C565143 |
|
| MDA |
19990101 |
|
| MMR |
20190617 |
|
| MN |
C10.228.140.380.165 C01.207.800.230 F03.615.400.300 C10.228.228.800.230 |
|
| notation |
D007562 |
|
| prefLabel |
Creutzfeldt-Jakob Syndrome |
|
| TERMUI |
T022734 T022732 T022729 T812338 T367204 T367210 T367208 T367205 T752046 T022731 T367207 T752045 T022730 T367209 |
|
| TH |
NLM (1997) OMIM (2013) NLM (2000) NLM (1991) NLM (1969) UNK (19XX) NLM (2010) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |