718880003: syndrome de Zellweger-like sans anomalies peroxysomales (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Developmental hereditary disorder\Zellweger-like syndrome without peroxisomal anomaly (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Zellweger-like syndrome without peroxisomal anomaly (disorder)
• \trouble métabolique\Mitochondrial cytopathy\Zellweger-like syndrome without peroxisomal anomaly (disorder)
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Zellweger-like syndrome without peroxisomal anomaly (disorder)
• \trouble du développement\Developmental hereditary disorder\Zellweger-like syndrome without peroxisomal anomaly (disorder)
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Zellweger-like syndrome without peroxisomal anomaly (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314290011	Zellweger-like syndrome without peroxisomal anomaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314291010	Ahn Lerman Sagie syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
753251000241112	syndrome de Zellweger-like sans anomalies peroxysomales (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
882441000172117	syndrome d'Ahn-Lerman-Sagie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
997751000172119	syndrome de Zellweger-like sans anomalies peroxysomales	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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