ORPHA:852

X-linked isolated thrombocytopenia with normal platelets size

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	X-linked isolated thrombocytopenia with normal platelets size
fr	Thrombocytopénie isolée liée à l'X avec plaquettes de taille normale
de	Isolierte Thrombozytopenie mit normaler Thrombozytengröße, X-chromosomale
es	Trombocitopenia aislada ligada al cromosoma X con plaquetas de tamaño normal
it	Trombocitopenia isolata legata all'X con piastrine normali
nl	X-gebonden geïsoleerde trombocytopenie met normale bloedplaatjes	X-gebonden geïsoleerde trombocytopenie met normale trombocyten
pt	Trombocitopenia ligada ao X com plaquetas normais
pl	Małopłytkowość sprzężona z chromosomem X z prawidłowymi płytkami
cs	X-vázaná trombocytopenie s normálními destičkami
uk	Х-зчеплена тромбоцитопенія з нормальними тромбоцитами
zh	X连锁血小板减少症伴正常血小板
tr	Normal trombositler ile seyreden X'e bağlı trombositopeni

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	313900	E		validated
ICD-10	D69.4	NTBT	attributed	validated
ICD-11	3B62.0Y	NTBT	index	validated
MONDO	0010743	E		validated
UMLS	C5548213	E		validated
GARD	5176	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):

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
WAS	Disease-causing germline mutation(s) in	Assessed	HGNC:12731	ENSG00000015285	300392	Xp11.23	WASP actin nucleation promoting factor	20301357[PMID]

0 records

No prevalence record in this release.

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