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syndroom van brachymorfie met onychodysplasie en symfalangie (aandoening)
syndroom van brachymorfie met onychodysplasie en symfalangie
BOD-syndroom
Brachymorphism with onychodysplasia and dysphalangism syndrome
BOD (brachymorphism, onychodysplasia, dysphalangism) syndrome
Senior syndrome
A very rare malformation syndrome with characteristics of short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.
Id720573009
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van nagel
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
TargetQ87.1
TermCongenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte
SNOMED CT to Orphanet simple map1292
SNOMED CT to ICD-10 extended map
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified