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hereditaire hypotrichose met recidiverende huidblaasjes (aandoening)
hereditaire hypotrichose met recidiverende huidblaasjes
erfelijke hypotrichie met terugkerende huidblaasjes
Hereditary hypotrichosis with recurrent skin vesicles syndrome
Hypotrichosis and recurrent skin vesicles
A very rare inherited hair loss disorder with characteristics of sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axilla and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Evidence suggests this syndrome is caused by homozygous mutation in the desmocollin-3 gene on chromosome 18q12.
Id724350009
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwijkend weefsel
Finding sitestructuur van huid
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ84.0
RuleTRUE
AdviceALWAYS Q84.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified