49227001: Phosphatidylcholine-sterol acyltransferase deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...

\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Phosphatidylcholine-sterol acyltransferase deficiency

\Red blood cell disorder\Hereditary red blood cell disorder\Phosphatidylcholine-sterol acyltransferase deficiency
\Red blood cell disorder\Erythrocyte membrane abnormality\Phosphatidylcholine-sterol acyltransferase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte membrane abnormality\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Metabolic disease\Enzymopathy\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Phosphatidylcholine-sterol acyltransferase deficiency
\Disease\Congenital disease\Inborn error of metabolism\Phosphatidylcholine-sterol acyltransferase deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

81995013 Phosphatidylcholine-sterol acyltransferase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

81996014 LCAT deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

81997017 Familial lecithin-cholesterol acyltransferase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

81998010 Norum's disease en Synonym Active Entire term case sensitive SNOMED CT core module

495340015 Norum disease en Synonym Active Entire term case sensitive SNOMED CT core module

495341016 LCAT - Lecithin-cholesterol acyltransferase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

786882010 Phosphatidylcholine-sterol acyltransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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	Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Erythrocyte membrane abnormality	true	Inferred relationship	Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier	2
Phosphatidylcholine-sterol acyltransferase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency	Is a	Hereditary red blood cell disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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