49227001: Phosphatidylcholine-sterol acyltransferase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency

\Inborn error of metabolism\Phosphatidylcholine-sterol acyltransferase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phosphatidylcholine-sterol acyltransferase deficiency

\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency
\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency
\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Phosphatidylcholine-sterol acyltransferase deficiency

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency
\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Phosphatidylcholine-sterol acyltransferase deficiency
\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Phosphatidylcholine-sterol acyltransferase deficiency

\Metabolic disease\Inborn error of metabolism\Phosphatidylcholine-sterol acyltransferase deficiency
\Metabolic disease\Enzymopathy\Phosphatidylcholine-sterol acyltransferase deficiency
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Phosphatidylcholine-sterol acyltransferase deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Phosphatidylcholine-sterol acyltransferase deficiency

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Erythrocyte membrane abnormality	true	Inferred relationship	Some
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Some
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Phosphatidylcholine-sterol acyltransferase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	2
Phosphatidylcholine-sterol acyltransferase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Phosphatidylcholine-sterol acyltransferase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Phosphatidylcholine-sterol acyltransferase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Phosphatidylcholine-sterol acyltransferase deficiency	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
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
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
792641000052113	brist på fosfatidylkolinsterol-acyltransferas	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)