Hepatic glycogen synthase deficiency 725026008

SNOMED CT code

SNOMED code

725026008

name

Hepatic glycogen synthase deficiency

status

active

date introduced

2017-07-31

fully specified name(s)

Hepatic glycogen synthase deficiency (disorder)

synonyms

Hepatic glycogen synthase deficiency
Glycogen storage disease due to hepatic glycogen synthase deficiency
Glycogen storage disease due to liver glycogen synthase deficiency
Glycogen storage disease type 0a
Glycogenosis type 0a

attributes - group2

Occurrence

Congenital 255399007

Finding site

Liver structure 10200004

attributes - group3

Occurrence

Congenital 255399007

Finding site

Skeletal muscle structure 127954009

parents

Glycogen synthase deficiency 237964009
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Muscle finding 106030000
Disorder of muscle 129565002
Disorder of skeletal muscle 75047002
Glycogen synthase deficiency 237964009
Hepatic glycogen synthase deficiency 725026008

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Hepatic glycogen synthase deficiency 725026008

ancestors

sorted most to least specific

Glycogen synthase deficiency 237964009
Autosomal recessive hereditary disorder 85995004
Disease of liver 235856003
Autosomal hereditary disorder 1899006
Glycogen storage disease 29633007
Digestive system hereditary disorder 363080007
Hereditary disorder of musculoskeletal system 363212003
Disorder of skeletal muscle 75047002
Disorder of liver and/or biliary tract 1290917001
Disorder of carbohydrate metabolism 20957000
Hereditary disorder by system 363137000
Disorder of muscle 129565002
Liver finding 249565005
Storage disease 34420000
Disorder of musculoskeletal system 928000
Disorder of soft tissue 19660004
Disorder of abdomen 118948005
Muscle finding 106030000
Abdominal organ finding 249561001
Disorder of digestive organ 76712006
Inborn error of metabolism 86095007
Musculoskeletal finding 106028002
General finding of soft tissue 248402002
Finding of abdomen 609624008
Viscus structure finding 406123005
Disorder of digestive system 53619000
Disorder of abdominopelvic segment of trunk 822988000
Hereditary metabolic disease 1821000146108
Congenital disease 66091009
Finding of abdominopelvic segment of trunk 822987005
Hereditary disease 32895009
Metabolic disease 75934005
Disorder of body system 362965005
Disorder of trunk 128121009
Digestive system finding 386617003
Finding of trunk structure 302292003
Genetic disease 782964007
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Muscle finding 106030000

Disorder of muscle 129565002

Disorder of skeletal muscle 75047002

Glycogen synthase deficiency 237964009

Hepatic glycogen synthase deficiency 725026008

SNOMED CT code