Autosomal recessive hereditary disorder	Developmental hereditary disorder	Disorder of refraction	Ectodermal dysplasia with hair-tooth defects	Hereditary disorder of the integument	Hereditary disorder of the visual system	Hereditary disorder of tooth
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Pilodental dysplasia, refractive errors syndrome (disorder)
	Pilodental dysplasia, refractive errors syndrome
	Kopysc Barczyk Krol syndrome Euhidrotic ectodermal dysplasia
	Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.

Id	771240009
Status	Primitive

Finding site	Structure of visual system
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Ectoderm structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Tooth structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Hair structure
Occurrence	Congenital
Pathological process	Pathological developmental process

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q82.4
Term	Ectodermale dysplasie (anhidrotisch)

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