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49227001: Phosphatidylcholine-sterol acyltransferase deficiency (disorder)


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
81995013 Phosphatidylcholine-sterol acyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
81996014 LCAT deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
81997017 Familial lecithin-cholesterol acyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
81998010 Norum's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
495340015 Norum disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core Concept inactivation indicator reference set: Duplicate component (foundation metadata concept)
495341016 LCAT - Lecithin-cholesterol acyltransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
786882010 Phosphatidylcholine-sterol acyltransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

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
Phosphatidylcholine-sterol acyltransferase deficiency Finding site Hematopoietic system structure false Inferred relationship Some
Phosphatidylcholine-sterol acyltransferase deficiency Occurrence Congenital true Inferred relationship Some
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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