syndroom van Waardenburg (aandoening)
syndroom van Waardenburg
syndroom van Waardenburg
Erfelijk syndroom met als kenmerken onder meer ver uit elkaar staande ogen, brede neusbrug, witte haarlok en doofheid.
Waardenburg syndrome
Waardenburg's syndrome
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early graying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).
Associated morphologyhypopigmentatie
Finding sitestructuur van huid
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
SNOMED CT to Orphanet simple map3440
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q89.8
CorrelationSNOMED CT source code to target map code correlation not specified