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syndroom van poikilodermie, alopecia, retrognathie en palatoschisis (aandoening)
syndroom van poikilodermie, alopecia, retrognathie en palatoschisis
syndroom van poikilodermie, alopecia, retrognathie en gespleten gehemelte
PARC-syndroom
Poikiloderma, alopecia, retrognathism, cleft palate syndrome
PARC (poikiloderma, alopecia, retrognathism, cleft palate) syndrome
PARC syndrome
A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.
Id771186004
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypoikilodermie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van palatum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyposterieure verplaatsing
Finding sitebotstructuur van kaak
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyrecessie
Finding sitebotstructuur van kaak
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2825
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified