ORPHA:1569

De Sanctis-Cacchione syndrome

Synonyms: Xeroderma pigmentosum with neurologic manifestation

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xeroderma pigmentosum

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	De Sanctis-Cacchione syndrome	Xeroderma pigmentosum with neurologic manifestation
fr	Syndrome de De Sanctis-Cacchione	Xeroderma pigmentosum avec manifestations neurologiques
de	De Sanctis-Cacchione-Syndrom	Xeroderma pigmentosum mit neurologischen Manifestationen
es	Síndrome de De Sanctis-Cacchione
it	Sindrome di De Sanctis-Cacchione
nl	Syndroom van De Sanctis-Cacchione	Xeroderma pigmentosum met neurologische manifestatie
pt	Síndrome De Sanctis-Cacchione
pl	Zespół De Sanctis i Cacchione	Skóra pergaminowaz objawami neurologicznymi
cs	De Sanctisův-Cacchioneho syndrom	Xeroderma pigmentosum s neurologickou manifestací · De Sanctis-Cacchioneho syndrom
uk	Синдром Де Санктіса-Каккіоне	Пігментна ксеродермія з неврологічними проявами
zh	De Sanctis-Cacchione 综合征	着色性干皮病伴神经系统表现
tr	De Sanctis-Cacchione sendromu	Nörolojik belirti ile seyreden kseroderma pigmentozum

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	278800	E	validated
MeSH	C535992	E	validated
UMLS	C0265201	E	validated
GARD	8276	E	validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Not placed in any Orphanet classification in this release.

No children.

0 direct

Orphanet records no gene directly on this code.

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.