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syndroom van trichodysplasie en xerodermie (aandoening)
syndroom van trichodysplasie en xerodermie
Trichodysplasia xeroderma syndrome
An extremely rare syndromic hair shaft anomaly with characteristics of sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.
Id766812005
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van scapus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interpretsvochtigheid van huid
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ84.2
TermOverige congenitale misvormingen van haar
TargetQ80.8
TermOverige gespecificeerde vormen van congenitale ichthyose
SNOMED CT to Orphanet simple map3361
SNOMED CT to ICD-10 extended map
TargetQ84.2
RuleTRUE
AdviceALWAYS Q84.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ80.8
RuleTRUE
AdviceALWAYS Q80.8
CorrelationSNOMED CT source code to target map code correlation not specified