49227001: Phosphatidylcholine-sterol acyltransferase deficiency (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

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) Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
81998010 Norum's disease en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
495340015 Norum disease en Synonym (core metadata concept) Inactive 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
1721821000005113 Phosphatidylcholin-sterol-acyltransferasemangel da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)