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234406005: Muscle phosphofructokinase deficiency (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2015. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    351198017 PFK - Muscle phosphofructokinase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
    351199013 Glycogen storage disease type VII en Synonym Active Only initial character case insensitive SNOMED CT core module
    351200011 Tauri disease en Synonym Active Entire term case sensitive SNOMED CT core module
    351201010 Muscle phosphofructokinase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
    622720018 Muscle phosphofructokinase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Muscle phosphofructokinase deficiency Is a Erythrocyte enzyme deficiency false Inferred relationship Existential restriction modifier
    Muscle phosphofructokinase deficiency Is a Hereditary disorder of hematologic system false Inferred relationship Existential restriction modifier
    Muscle phosphofructokinase deficiency Is a Glycogen storage disease false Inferred relationship Existential restriction modifier
    Muscle phosphofructokinase deficiency Is a Congenital anomaly of the hematopoietic system false Inferred relationship Existential restriction modifier
    Muscle phosphofructokinase deficiency Finding site Hematopoietic system structure false Inferred relationship Existential restriction modifier
    Muscle phosphofructokinase deficiency Finding site Erythrocyte false Inferred relationship Existential restriction modifier
    Muscle phosphofructokinase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier
    Muscle phosphofructokinase deficiency Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier
    Muscle phosphofructokinase deficiency Finding site Liver structure false Inferred relationship Existential restriction modifier
    Muscle phosphofructokinase deficiency Finding site Hematopoietic system structure false Inferred relationship Existential restriction modifier
    Muscle phosphofructokinase deficiency Has definitional manifestation Red blood cell finding false Inferred relationship Existential restriction modifier

    Inbound Relationships Type Active Source Characteristic Refinability Group

    This concept is not in any reference sets

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