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syndroom van THOC6-gerelateerde ontwikkelingsachterstand, microcefalie en faciale dysmorfie (aandoening)
syndroom van THOC6-gerelateerde ontwikkelingsachterstand, microcefalie en faciale dysmorfie
BBIS
syndroom van Beaulieu-Boycott-Innes
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
Beaulieu Boycott Innes syndrome
BBIS - Beaulieu Boycott Innes syndrome
A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent.
Id773554009
StatusPrimitive
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
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 map363444
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