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

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 Only initial character 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 Only initial character case insensitive (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 Only initial character case insensitive (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

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)