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syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies en verstandelijke beperking (aandoening)
syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies en verstandelijke beperking
syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies en verstandelijke handicap
syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies en mentale retardatie
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.
Id721089006
StatusPrimitive
Interpretsgehoorfunctie
Associated morphologymorfologische afwijking
Finding sitestructuur van dentine
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
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map71267
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