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congenitale afwezigheid van vingerafdrukken (aandoening)
congenitale afwezigheid van vingerafdrukken
geïsoleerde congenitale adermatoglyfie
aangeboren afwezigheid van vingerafdrukken
immigration delay disease
Isolated congenital adermatoglyphia
Congenital absence of fingerprints
Immigration delay disease
A rare genetic developmental defect during embryogenesis disorder with characteristics of the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. There is evidence the disorder is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.
Id763748007
StatusPrimitive
Associated morphologyafwezigheid
Finding sitegehele dermatoglyfenpatroon
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 map289465
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