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syndroom van alopecia en verstandelijke beperking (aandoening)
syndroom van alopecia en verstandelijke beperking
syndroom van alopecia en mentale retardatie
syndroom van Perniola-Krajewska-Carnevale
syndroom van alopecia en verstandelijke handicap
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
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2850
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified