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Zellweger-like syndrome without peroxisomal anomaly (disorder)
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.
Zellweger-achtig syndroom zonder peroxisomale anomalie
syndroom van Ahn-Lerman-Sagie
Id718880003
StatusPrimitive
Associated morphologyMorphologically abnormal structure
OccurrenceCongenital
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified