syndroom van ablatio retinae en occipitale encephalocele (aandoening)
syndroom van ablatio retinae en occipitale encephalocele
syndroom van Knobloch
syndroom van Knobloch-Layer
syndroom van netvliesloslating en occipitale encefalokèle
Retinal detachment and occipital encephalocele
Knobloch syndrome
Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait.
Associated morphologyatrophia
Finding sitestructuur van perifere retina
Associated morphologyfusiedefect
Finding sitebotstructuur van cranium
Pathological processproces van pathologische ontwikkeling
Associated morphologydegeneratieve afwijking
Finding sitestructuur van macula lutea
Associated morphologyatrophia
Finding sitestructuur van corpus vitreum
Associated morphologyherniatie
Finding sitestructuur van encephalon
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1571
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q15.8
CorrelationSNOMED CT source code to target map code correlation not specified