||||||
trichothiodystrofie (aandoening)
trichothiodystrofie
Trichothiodystrophy
A rare, genetic, syndromic hair shaft abnormality disorder characterized by short, dry, sulfur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.
Id723551003
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van scapus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetL67.8
TermOverige gespecificeerde afwijkingen van haarkleur en haarschacht
SNOMED CT to Orphanet simple map33364
SNOMED CT to ICD-10 extended map
TargetL67.8
RuleTRUE
AdviceALWAYS L67.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
|