ORPHA:268973

Isolated focal cortical dysplasia type Ia

Synonyms: FCD type Ia

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Isolated focal cortical dysplasia type Ia	FCD type Ia
fr	Dysplasie corticale focale isolée type Ia	= en
de	Kortikale Dysplasie, fokale isolierte, Typ Ia	FCD Typ Ia
es	Displasia cortical focal aislada tipo Ia	FCD tipo Ia
it	Displasia corticale focale isolata, tipo Ia	FCD, tipo Ia
nl	Geïsoleerde focale corticale dysplasie type Ia	= en
pt	Displasia cortical focal isolada tipo Ia	FCD tipo Ia
pl	Izolowana dysplazja korowa mózgu typu Ia	FCD typu Ia
cs	Izolovaná fokální kortikální dysplázie, typ Ia	FCD typ Ia
uk	Ізольована фокальна кортикальна дисплазія, тип Ia	FCD тип Ia
zh	孤立性局灶性脑皮质发育不良Ia型	FCD Ia型
tr	İzole fokal kortikal displazi tip Ia	FCD tip Ia

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q04.8	NTBT	attributed	validated
ICD-11	LA05.51	NTBT	index	validated
MONDO	0017096	E		validated
UMLS	C5679767	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:268961Isolated focal cortical dysplasia type I
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SLC35A2	Disease-causing somatic mutation(s) in	Assessed	HGNC:11022	ENSG00000102100	314375	Xp11.23	solute carrier family 35 member A2	29679388[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

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