46,XX-geslachtsontwikkelingsstoornis	autosomaal recessieve hereditaire aandoening	hereditaire aandoening van endocrien systeem	hereditaire aandoening van voortplantingsstelsel	hereditaire ontwikkelingsstoornis	kleine gestalte	ovariële dysgenesie
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syndroom van 46,XX-ovariële dysgenesie en kleine gestalte (aandoening)
	syndroom van 46,XX-ovariële dysgenesie en kleine gestalte
	syndroom van gonadale dysgenesie 46,XX en kleine lichaamslengte
	46,XX ovarian dysgenesis, short stature syndrome
	A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.

Id	1237345002
Status	Primitive

Has interpretation	verlaagd
Interprets	hormoonsecretie

Has interpretation	onder referentiebereik
Interprets	Body height

Associated morphology	morfologische afwijking
Finding site	endocriene structuur van ovarium
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

SNOMED CT to Orphanet simple map

SNOMED CT to ICD-10 extended map

Target	Q96.8
Rule	TRUE
Advice	ALWAYS Q96.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified