718880003: Zellweger-like syndrome without peroxisomal anomaly (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\Zellweger-like syndrome without peroxisomal anomaly
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Zellweger-like syndrome without peroxisomal anomaly
• \Metabolic disease\Mitochondrial cytopathy\Zellweger-like syndrome without peroxisomal anomaly
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Zellweger-like syndrome without peroxisomal anomaly
• \Developmental disorder\Developmental hereditary disorder\Zellweger-like syndrome without peroxisomal anomaly
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Zellweger-like syndrome without peroxisomal anomaly

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314289019	Zellweger-like syndrome without peroxisomal anomaly (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3314290011	Zellweger-like syndrome without peroxisomal anomaly	en	Synonym	Active	Case sensitive	SNOMED CT core
3314291010	Ahn Lerman Sagie syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3314292015	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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