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Zellweger-achtig syndroom zonder peroxisomale anomalie (aandoening)
Zellweger-achtig syndroom zonder peroxisomale anomalie
syndroom van Ahn-Lerman-Sagie
Zellweger-like syndrome without peroxisomal anomaly
Ahn Lerman Sagie syndrome
An extremely rare mitochondrial disorder with characteristics of facial dysmorphism similar to that seen in Zellweger syndrome. These features include frontal bossing, high forehead, up slanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds and in addition, pale skin, profound hypotonia, developmental delay and minor metabolic anomalies. No peroxisomal defects have been reported. Transmission is thought to be autosomal recessive.
Id718880003
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified