49227001: fosfatidylcholine-sterol-O-acyltransferasedeficiëntie (aandoening)

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

1531631000146118 fosfatidylcholine-sterol-O-acyltransferasedeficiëntie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

1531641000146114 fosfatidylcholine-sterol-O-acyltransferasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

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