artrose	autosomaal recessieve hereditaire aandoening	congenitale afwijking van gewricht	ectodermale dysplasie met afwijkingen van gebitselementen en nagels	genetische nagelaandoening	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van gebitselement	hereditaire aandoening van integumentum	hereditaire ontwikkelingsstoornis
\|	\|	\|	\|	\|	\|	\|	\|	\|

dermato-osteolyse van Kirgizische type (aandoening)
	dermato-osteolyse van Kirgizische type
	Dermatoosteolysis Kirghizian type
	Kirghizian dermatoosteolysis
	Disease with characteristics of recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five siblings in a family of Kirghizian origin (Central Asia). Three of the siblings also presented with keratitis leading to visual impairment or blindness. Transmission is autosomal recessive.

Id	721090002
Status	Primitive

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

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

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

Associated morphology	osteolyse
Finding site	structuur van gewricht
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	Q82.4
Term	Ectodermale dysplasie (anhidrotisch)

SNOMED CT to Orphanet simple map

1657

SNOMED CT to ICD-10 extended map

Target	Q82.4
Rule	TRUE
Advice	ALWAYS Q82.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified