ORPHA:79484

Phakomatosis cesiomarmorata

Synonyms: Phakomatosis pigmentovascularis type 5

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Phakomatosis cesiomarmorata	Phakomatosis pigmentovascularis type 5
fr	Phacomatose cesiomarmorata	Phacomatose pigmento-vasculaire type V
de	Phakomatosis cesiomarmorata	Phakomatosis pigmentovascularis Typ V
es	Facomatosis cesiomarmorata	Facomatosis pigmentovascular tipo 5
it	Facomatosi cesiomarmorata	Facomatosi pigmento-vascolare, tipo 5
nl	Phakomatosis cesiomarmorata	= en
pt	Facomatose cesiomarmorata
pl	Phakomatosis cesiomarmorata	Fakomatoza barwnikowo-naczyniowa typu 5
cs	Phakomatosis cesiomarmorata	Phakomatosis pigmentovascularis, typ 5
uk	Факоматоз cesiomarmorata	Факоматоз пігментно-судинний, тип 5
zh	色素血管性斑痣性错构瘤病5型	色素血管性斑痣性错构瘤病5型
tr	Fakomatozis sesiomarmorata	Fakomatoz pigmentovasküler tip 5

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q85.8	NTBT	attributed	validated
ICD-11	LD2D.Y	NTBT	index	validated
MONDO	0019326	E		validated
UMLS	C3839296	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:2875Phakomatosis pigmentovascularis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders; rare circulatory system diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GNA11	Disease-causing somatic mutation(s) in	Assessed	HGNC:4379	ENSG00000088256	139313	19p13.3	G protein subunit alpha 11	26778290[PMID]

0 records

No prevalence record in this release.

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