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syndroom van gekruld haar, acrale keratodermie en cariës (aandoening)
syndroom van gekruld haar, acrale keratodermie en cariës
CHAC-syndroom
CHACS
Curly hair, acral keratoderma, caries syndrome
CHACS - curly hair, acral keratoderma, caries syndrome
An extremely rare ectodermal dysplasia syndrome with characteristics of premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.
Id763686007
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretszweten
Associated morphologymorfologische afwijking
Finding sitestructuur van nagel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ82.8
TermOverige gespecificeerde congenitale misvormingen van huid
SNOMED CT to Orphanet simple map307766
SNOMED CT to ICD-10 extended map
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified