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syndroom van cheilopalatoschisis met ectodermale dysplasie (aandoening)
syndroom van cheilopalatoschisis met ectodermale dysplasie
Zlotogora-Ogur-syndroom
syndroom van Zlotogora-Zilberman-Tenenbaum
syndroom van gespleten lip en/of verhemelte en ectodermale dysplasie
Zlotogora Ogur syndrome
Zlotogora Zilberman Tenenbaum syndrome
Cleft lip and cleft palate with ectodermal dysplasia syndrome
Cleft lip and palate with syndactyly and pili torti
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive.
Id716248001
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ37.9
TermNiet gespecificeerd gespleten gehemelte met enkelzijdig gespleten lip
TargetQ82.4
TermEctodermale dysplasie (anhidrotisch)
SNOMED CT to Orphanet simple map3253
SNOMED CT to ICD-10 extended map
TargetQ37.9
RuleTRUE
AdviceALWAYS Q37.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4
CorrelationSNOMED CT source code to target map code correlation not specified