ORPHA:79483

Phakomatosis cesioflammea

Synonyms: Phakomatosis pigmentovascularis type 2

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Phakomatosis cesioflammea	Phakomatosis pigmentovascularis type 2
fr	Phacomatose cesioflammea	Phacomatose pigmento-vasculaire type II
de	Phakomatosis cesioflammea	Phakomatosis pigmentovascularis Typ II
es	Facomatosis cesioflammea	Facomatosis pigmentovascular tipo 2
it	Facomatosi cesioflammea	Facomatosi pigmento-vascolare, tipo 2
nl	Phakomatosis cesioflammea	= en
pt	Facomatose cesioflammea
pl	Phakomatosis cesioflammea	Fakomatoza barwnikowo-naczyniowa typu 2
cs	Phakomatosis cesioflammea	Phakomatosis pigmentovascularis, typ 2
uk	Факоматоз cesioflammea	Пігментно-судинний факоматоз 2 типу
zh	色素血管性斑痣性错构瘤病2型	色素血管性斑痣性错构瘤病2型
tr	Fakomatozis sesioflammea	Fakomatoz pigmentovasküler tip 2

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	0019325	E		validated
UMLS	C3838883	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.

2 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]
GNAQ	Disease-causing somatic mutation(s) in	Assessed	HGNC:4390	ENSG00000156052	600998	9q21.2	G protein subunit alpha q	26778290[PMID]

0 records

No prevalence record in this release.

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