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syndroom van microbrachycefalie, ptose en cheiloschisis (aandoening)
syndroom van microbrachycefalie, ptose en cheiloschisis
syndroom van Richieri Costa-Guion Almeida-Ramos
syndroom van microbrachycefalie, ptosis en gespleten lip
Microbrachycephaly, ptosis, cleft lip syndrome
Richieri Costa Guion Almeida Ramos syndrome
Syndrome with the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.
Id723403008
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van labium oris
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 map2511
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