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syndroom van alopecia en verstandelijke beperking (aandoening)
syndroom van alopecia en verstandelijke beperking
syndroom van alopecia en verstandelijke handicap
syndroom van alopecia en mentale retardatie
syndroom van Perniola-Krajewska-Carnevale
Perniola Krajewska Carnevale syndrome
Alopecia and intellectual disability syndrome
An extremely rare syndrome described in less than 20 families to date and has characteristics of total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
Id716191002
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van pilus
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified