Orphanet

Orphanet

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Orphanet

The portal for rare diseases and orphan drugs. "Rare diseases are rare, but rare disease patients are numerous". Access our Services.

About Orphanet - Orphanet

Not all rare diseases are indexed by their clinical signs in Orphanet at the ... the information published online, nor for the technical problems encountered on the ...

CHU BESANCON - Orphanet

CHU Besançon; CHRU de Besançon - Hôpital Jean Minjoz; 3 boulevard Fleming; 25030 BESANÇON CEDEX; FRANCE; More information; Phone : 33(0)3 81 ...

Down syndrome - Orphanet

ORPHA:870. Classification level: Disorder. Synonym(s):. Trisomy 21. Prevalence: 1-5 / 10 000; Inheritance: Not applicable; Age of onset: Antenatal, Neonatal ...

Síndrome de Down - Orphanet

La prevalencia del síndrome de Down (SD) al nacimiento en un país depende en gran medida de factores no médicos, es decir, políticas públicas relacionadas ...

Kleefstra syndrome - Orphanet

Recurrent pulmonary infections, overweight and behavioral problems seem to be reported more often in those with KS due to a point mutation, whereas ...

Diseases list - Orphanet

Information in Orphanet is not intended to replace professional health care. ... disease · Acute non-herpetic encephalitis with severe refractory status epilepticus ...

Prader Willi syndrome - Orphanet

The portal for rare diseases and orphan drugs. ... and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe ... ORPHA:739.

Smith Magenis syndrome - Orphanet

Otolaryngological problems such as velopharyngeal insufficiency, a hoarse deep voice, and vocal cord nodules and polyps are also common; hearing loss (60% ...

Acute megakaryoblastic leukemia without Down syndrome - Orphanet

ORPHA:329469. Classification level: Subtype of disorder. Synonym(s):. Non-DS-AMKL. Prevalence: Unknown; Inheritance: Not applicable; Age of onset: ...

Verzeichnis der Arzneimittel für seltene Krankheiten in ... - Orphanet

19 Apr 2018 ... eines Arzneimittels für seltene Krankheiten in bestimmten. Ländern ... http://www.orpha.net/orphacom/cahiers/docs/DE/ ... ASCT or multi-agent chemotherapy is not a treatment ... factor-I (IGF-I) SDS < -2 off growth hormone.

ICD-10 coding rules for rare diseases - Orphanet

ICD-10 coding rules for rare diseases - Procedural Document ... In particular, when the ICD-10 does not mention the disease and therefore needs to ... and all subtypes of hereditary spastic paraplegia identified by numbers, further down in the.

Vogt-Koyanagi-Harada disease - Orphanet Journal of Rare Diseases

Vogt-Koyanagi-Harada disease (VKHD) is a rare granulomatous ... Courtesy of Arquivos Brasileiros de Oftalmologia – Damico, F.M., et al., New ... These cookies are necessary for the website to function and cannot be switched off in our ... Please note that based on your settings not all functionalities of the site are available.

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