autosomaal recessieve hereditaire aandoening	congenitaal cataract	congenitale afwijking van benig skelet	gehoorverlies bij syndroom	hereditaire aandoening van auditief systeem	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	perceptief gehoorverlies
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syndroom van doofheid, cataract en skeletafwijkingen (aandoening)
	syndroom van doofheid, cataract en skeletafwijkingen
	syndroom van Nathalie
	Nathalie syndrome
	Deafness with cataract and skeletal anomaly syndrome
	Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.

Id	716170005
Status	Primitive

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

Associated morphology	troebeling
Finding site	structuur van lens cristallina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Finding site

structuur van auditief systeem

Has interpretation	gestoord
Interprets	gehoorfunctie

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

2663

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8
Correlation	SNOMED CT source code to target map code correlation not specified