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'switch-insensitive 3 transcription regulator family member A'-gerelateerd syndroom van verstandelijke beperking (aandoening)
SIN3A-gerelateerd syndroom van verstandelijke beperking
SIN3A-gerelateerd syndroom van verstandelijke handicap
syndroom van Witteveen-Kolk
'switch-insensitive 3 transcription regulator family member A'-gerelateerd syndroom van verstandelijke beperking
Witteveen-Kolk-syndroom
WITKOS
SIN3A-gerelateerd syndroom van mentale retardatie
Witteveen Kolk syndrome
SIN3A-related intellectual disability syndrome
SIN3A (Switch-insensitive 3 transcription regulator family member A)-related intellectual disability syndrome
WITKOS - Witteveen Kolk syndrome
A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities. The disorder is either caused by mutations in Switch-insensitive 3 transcription regulator family member A (SIN3A; 15q24.2) or microdeletions, of various sizes, in the chromosome region 15q24 (15q24 microdeletion syndrome). The microdeletions often, but not always, encompass SIN3A. Transmission is autosomal dominant.
Id1187122000
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetF83
TermGemengde specifieke ontwikkelingsstoornissen
SNOMED CT to Orphanet simple map500163
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified