|||||||
syndroom van microcefalie, doofheid en verstandelijke beperking (aandoening)
syndroom van microcefalie, doofheid en verstandelijke beperking
syndroom van microcefalie, doofheid en mentale retardatie
syndroom van Kawashima-Tsuji
syndroom van microcefalie, doofheid en verstandelijke handicap
Kawashima Tsuji syndrome
Microcephaly with deafness and intellectual disability syndrome
This syndrome has manifestations of microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.
Id716112005
StatusPrimitive
Has interpretationgestoord
Interpretsgehoorfunctie
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.0
TermCongenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan
SNOMED CT to Orphanet simple map2533
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified