congenitaal hypogonadotroop hypogonadisme	congenitale hypoplasie van uitwendige neus	hypoplasie van oog	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
\|	\|	\|	\|

syndroom van hyposmie, hypogeusie, nasale en oculaire hypoplasie en hypogonadotroop hypogonadisme (aandoening)
	syndroom van hyposmie, hypogeusie, nasale en oculaire hypoplasie en hypogonadotroop hypogonadisme
	syndroom van Bosma-Henkin-Christiansen Bosma-Henkin-Christiansen-syndroom
	Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
	Bosma Henkin Christiansen syndrome
	Syndrome with the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. It has been described in two males. Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata.

Id	724281002
Status	Primitive

Associated morphology	hypoplasie
Finding site	structuur van uitwendige neus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	hypoplasie
Finding site	gehele bulbus oculi
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Finding site	structuur van pars distalis adenohypophysis
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Finding site	endocriene structuur van gonade
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

2250

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified