autosomaal recessieve hereditaire aandoening	ectodermale dysplasie	gehoorverlies bij syndroom	hereditaire aandoening van auditief systeem	hereditaire aandoening van integumentum	hereditaire ontwikkelingsstoornis	perceptief gehoorverlies
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syndroom van ectodermale dysplasie en sensorineurale doofheid (aandoening)
	syndroom van ectodermale dysplasie en sensorineurale doofheid
	ectodermale dysplasie-sensorineuraal gehoorverlies-syndroom ectodermale dysplasie-sensorineurale doofheid-syndroom
	Ectodermal dysplasia and sensorineural deafness syndrome
	Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.

Id	732953008
Status	Primitive

Interprets

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

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

Finding site

structuur van auditief systeem

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q82.4
Term	Ectodermale dysplasie (anhidrotisch)

Target	H90.5
Term	Gehoorverlies door perceptiestoornis, niet gespecificeerd

SNOMED CT to Orphanet simple map

1883

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

Target	H90.5
Rule	TRUE
Advice	ALWAYS H90.5
Correlation	SNOMED CT source code to target map code correlation not specified