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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
    1721821000005113 Phosphatidylcholin-sterol-acyltransferasemangel da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) dansk modul


    0 descendants.

    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 Hematopoietic 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 Hematopoietic 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

    GB English

    US English

    SAME AS association reference set (foundation metadata concept)

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