Glycogen phosphorylase kinase deficiency   235908005

SNOMED CT code


SNOMED code235908005
nameGlycogen phosphorylase kinase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Glycogen storage disease type IX (disorder)
synonyms
  • Glycogen phosphorylase kinase deficiency
  • PHK - Hepatic phosphorylase kinase deficiency
  • Hepatic phosphorylase kinase deficiency
  • Phosphorylase kinase deficiency of liver
  • Glycogen storage disease type IX
  • Glycogenosis viiia
attributes - group1
OccurrenceCongenital   255399007
Finding siteLiver structure   10200004
parents
children
  • Glycogen phosphorylase kinase deficiency, autosomal recessive   297252005
  • Glycogen phosphorylase kinase deficiency, X-linked   297251003  removed: 2021-09-30
  • Glycogen storage disease due to muscle phosphorylase kinase deficiency   819953000
  • Glycogen storage disease type IXB   860860004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Liver finding   249565005
        Disease of liver   235856003
          Glycogen phosphorylase kinase deficiency   235908005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of carbohydrate metabolism   20957000
          Glycogen storage disease   29633007
            Glycogen phosphorylase kinase deficiency   235908005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Glycogen phosphorylase kinase deficiency   235908005

ancestors
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