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.
Associated morphologymorfologische afwijking
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map50812
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified