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Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)
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.
syndroom van cheilopalatoschisis met ectodermale dysplasie
syndroom van gespleten lip en/of verhemelte en ectodermale dysplasie
Zlotogora-Ogur-syndroom
syndroom van Zlotogora-Zilberman-Tenenbaum
Id716248001
StatusPrimitive
Associated morphologyDevelopmental failure of fusion
Finding siteLip structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteEctoderm structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDevelopmental failure of fusion
Finding sitePalatal structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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