Visningssätt för begreppens/termernas förhållanden:
Det sätt begreppsrelationer visas:
Det sätt begreppsrelationer visas:
Canavans sjukdom
Hierarki: | ∟ ∟ ∟ ∟ Canavans sjukdom 30 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Canavans sjukdom 30 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Canavans sjukdom 30 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Canavans sjukdom 30 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Canavans sjukdom 30 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | ∟ ∟ ∟ ∟ Canavans sjukdom ∟ ∟ ∟ ∟ ∟ Canavans sjukdom ∟ ∟ ∟ ∟ Canavans sjukdom ∟ ∟ ∟ ∟ Canavans sjukdom ∟ ∟ ∟ ∟ ∟ Canavans sjukdom |
Anmärkning: | |
Anmärkning: | A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
X |
Annotation: | do not confuse X ref CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS; DF: CANAVAN DIS
X |
historyNote*: | 94
X |
publicMeSHNote*: | 94
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1993-02-16X |
dateEstablished*: | 1994-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | agsX |
recordOriginator*: | TGCX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Canavanin tauti (fi) XCanavan-van Bogaert-Bertrandin tauti (fi, ersatt) Canavanin sairaus (fi, ersatt) Spongiforminen leukodystrofia (fi, ersatt) Leukodystrofi, spongiform (sv, ersatt) Canavans leukodystrofi (sv, ersatt) Canavan Disease (en) Type III Canavan Disease (en, ersatt) Type II Canavan Disease (en, ersatt) Type I Canavan Disease (en, ersatt) Sporadic Form of Canavan Disease (en, ersatt) Spongy Disease of White Matter (en, ersatt) Spongy Disease of Central Nervous System (en, ersatt) Deficiency Disease, Aspartoacylase (en, ersatt) Canavan-van Bogaert-Bertrand Disease (en, ersatt) Canavan Disease, Type III (en, ersatt) Canavan Disease, Type II (en, ersatt) Familial Form of Canavan Disease (en, ersatt) Infantile Canavan Disease (en, ersatt) Spongy Degeneration of Infancy (en, ersatt) Neonatal Canavan Disease (en, ersatt) Leukodystrophy, Spongiform (en, ersatt) Juvenile Canavan Disease (en, ersatt) Canavan Disease, Type I (en, ersatt) Morbus Canavan-van Bogaert-Bertrand (la-FI, ersatt) Morbus Canavan (la-FI, ersatt) |
Dela: |
Laddar resultat...