49227001: Phosphatidylcholine-sterol acyltransferase deficiency (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...
• \troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \anomalie de la lignée rouge\Erythrocyte membrane abnormality\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Erythrocyte membrane abnormality\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Erythrocyte membrane abnormality\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\trouble métabolique\Enzymopathy\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Phosphatidylcholine-sterol acyltransferase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
495340015	Norum disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
495341016	LCAT - Lecithin-cholesterol acyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
786882010	Phosphatidylcholine-sterol acyltransferase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
81995013	Phosphatidylcholine-sterol acyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
81996014	LCAT deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
81997017	Familial lecithin-cholesterol acyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
81998010	Norum's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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