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syndroom van overgroei, macrocefalie en faciale dysmorfie (aandoening)
syndroom van overgroei, macrocefalie en faciale dysmorfie
Overgrowth, macrocephaly, facial dysmorphism syndrome
RNF135 (ring finger protein 135) related overgrowth syndrome
Ring finger protein 135 related overgrowth syndrome
This syndrome has characteristics of tall stature, learning difficulties and facial dysmorphism. So far, it has been described in six families. The syndrome is caused by mutations in the RNF135 (ring finger protein 135) gene.
Id722122000
StatusPrimitive
Associated morphologyvergroting
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationboven referentiebereik
Interpretshoofdomtrek
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.3
TermCongenitale gestoorde-ontwikkelingssyndromen met vroege versterkte groei
SNOMED CT to Orphanet simple map137634
SNOMED CT to ICD-10 extended map
TargetQ87.3
RuleTRUE
AdviceALWAYS Q87.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified