congenitaal hypergonadotroop hypogonadisme	congenitale afwijking van benig skelet	dysplasie met verhoogde botdichtheid	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van endocrien systeem	hereditaire aandoening van voortplantingsstelsel	ichthyosis congenita	malformatiesyndroom met betrokkenheid van meerdere systemen	prematuur ovarieel falen
\|	\|	\|	\|	\|	\|	\|	\|	\|

syndroom van scleroserende botdysplasie, ichtyose en prematuur ovariumfalen (aandoening)
	syndroom van scleroserende botdysplasie, ichtyose en prematuur ovariumfalen
	Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome
	Osteosclerosis, ichthyosis, premature ovarian failure syndrome
	This syndrome has characteristics of sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. It has been described in three adult sisters presenting with swelling of the limbs and occasional mild pain in the legs.

Id	722114007
Status	Primitive

Associated morphology	dysplasie
Finding site	botstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

Has interpretation	verlaagd
Interprets	hormoonsecretie

Associated morphology	hyperkeratose
Finding site	gehele huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	afwijkend
Interprets	keratinisatie

Has interpretation	boven referentiebereik
Interprets	botdensitometrie

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q77.4
Term	Achondroplasie

Target	Q80.0
Term	Ichthyosis vulgaris

Target	E28.3
Term	Primaire ovariuminsufficiëntie

SNOMED CT to Orphanet simple map

75325

SNOMED CT to ICD-10 extended map

Target	Q77.4
Rule	TRUE
Advice	ALWAYS Q77.4
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q80.0
Rule	TRUE
Advice	ALWAYS Q80.0
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E28.3
Rule	TRUE
Advice	ALWAYS E28.3
Correlation	SNOMED CT source code to target map code correlation not specified