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syndroom van nagelafwijkingen en tandafwijkingen, marginale palmoplantaire keratodermie en orale hyperpigmentatie (aandoening)
syndroom van nagelafwijkingen en tandafwijkingen, marginale palmoplantaire keratodermie en orale hyperpigmentatie
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Ectodermal dysplasia short stature syndrome
Short stature, nail dysplasia, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
A rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have also been observed.
Id764995008
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymelanose
Finding sitestructuur van tunica mucosa oris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van nagel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperkeratose
Finding sitestructuur van huid van voetzool
referentieset met complexe 'mapping' naar ICD-10
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified