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61598006: Glycogenosis with glucoaminophosphaturia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Glycogenosis with glucoaminophosphaturia

\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Glycogenosis with glucoaminophosphaturia
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Glycogenosis with glucoaminophosphaturia

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogenosis with glucoaminophosphaturia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital anomaly of liver\Glycogenosis with glucoaminophosphaturia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Glycogenosis with glucoaminophosphaturia
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Glycogenosis with glucoaminophosphaturia
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Glycogenosis with glucoaminophosphaturia
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogenosis with glucoaminophosphaturia
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogenosis with glucoaminophosphaturia

Status: current. Date: 31-Jan 2002

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogenosis with glucoaminophosphaturia	Is a	Disorder of carbohydrate metabolism	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogenosis with glucoaminophosphaturia	Is a	Storage disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogenosis with glucoaminophosphaturia	Is a	Congenital anomaly of liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogenosis with glucoaminophosphaturia	Associated morphology	Morphologically abnormal structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Glycogenosis with glucoaminophosphaturia	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Glycogenosis with glucoaminophosphaturia	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Glycogenosis with glucoaminophosphaturia	Pathological process (attribute)	Pathological developmental process	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Glycogenosis with glucoaminophosphaturia	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Glycogenosis with glucoaminophosphaturia	Finding site	Kidney structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Glycogenosis with glucoaminophosphaturia	Pathological process (attribute)	Pathological developmental process	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

US English

Congenital syphilitic hepatomegaly

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
102346017	Glycogenosis with glucoaminophosphaturia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102347014	Fanconi-Bickel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
102348016	Renal glucose-losing syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102349012	Pseudo-phlorizin diabetes	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102350012	Hepatic glycogenosis with de Toni-Debré-Fanconi syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
102351011	Hepatic glycogenosis with de Toni-Debre-Fanconi syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
800677014	Glycogenosis with glucoaminophosphaturia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core