- Haltia-Santavuori disease
- Hal·tia-San·ta·vu·ori disease (hahlґte-ah sahn″tah-vwoґre) [M. Haltia, Finnish physician, 20th century; Pirkko Santavuori, Finnish physician, 20th century] see under disease.
Medical dictionary. 2011.
Haltia-Santavuori disease
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Haltia-Santavuori disease — a rare infantile form of neuronal ceroid lipofuscinosis, beginning about one year of age, with excessive storage of lipofuscin, failure to thrive, myoclonic seizures, muscular hypotonia, psychomotor developmental delay and deterioration,… … Medical dictionary
Santavuori disease (syndrome) — San·ta·vuo·ri disease (syndrome) (sahn″tah vwoґre) [Pirkko Santavuori, Finnish physician, 20th century] Haltia Santavuori disease; see under disease … Medical dictionary
Santavuori disease — Santavuori Haltia disease Haltia Santavuori d … Medical dictionary
Santavuori-Haltia disease (syndrome) — San·ta·vuo·ri Hal·tia disease (syndrome) (sahn″tah vwoґre hahlґte ah) [P. Santavuori; M. Haltia, Finnish physician, 20th century] Haltia Santavuori disease; see under disease … Medical dictionary
Santavuori syndrome — Santavuori Haltia syndrome Haltia Santovuori disease … Medical dictionary
ceroid-lipofuscinosis — neuronal ceroid lipofuscinosis a term for several genetic lipidoses of diverse biochemical and clinical characteristics, all characterized by progressive neurodegeneration, loss of vision, and a fatal course; the infantile type is Haltia… … Medical dictionary
Infantile neuronal ceroid lipfuscinosis — Infobox Disease Name = Infantile neuronal ceroid lipfuscinosis Caption = DiseasesDB = 31533 ICD10 = ICD9 = ICDO = OMIM = 256730 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D009472 INCL, also known as Infantile Neuronal Ceroid… … Wikipedia
Neuronal ceroid lipofuscinosis — Classification and external resources ICD 10 E75.4 ICD 9 330.1 … Wikipedia
lipofuscinosis — Abnormal storage of any one of a group of fatty pigments. ceroid l. SYN: Batten disease. neuronal ceroid l. a group of diseases characterized by accumulation of abnormal pigments in tissue (previously classified as … Medical dictionary
CLN5 — Ceroid lipofuscinosis, neuronal 5, also known as CLN5, is a human gene.cite web | title = Entrez Gene: CLN5 ceroid lipofuscinosis, neuronal 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=1203| accessdate … Wikipedia
