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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
Microcephaly-deafness-intellectual disability syndrome is characterized by 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 morphologyafwijkend klein
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2533
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