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syndroom van doofheid, glazuurhypoplasie en nageldefect (aandoening)
syndroom van doofheid, glazuurhypoplasie en nageldefect
Heimler-syndroom
doofheid-glazuurhypoplasie-nageldefect-syndroom
syndroom van Heimler
Deafness, enamel hypoplasia, nail defect syndrome
Heimler syndrome
This syndrome is characterized by sensorineural hearing loss, generalized enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.
Id721085000
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van nagel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van enamelum
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetK00.4
RuleTRUE
AdviceALWAYS K00.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ84.6
RuleTRUE
AdviceALWAYS Q84.6
CorrelationSNOMED CT source code to target map code correlation not specified