459062008: letale congenitale niet-lysosomale cardiale glycogenose (aandoening)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Fatal congenital nonlysosomal heart glycogenosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2013. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Is a	Congenital heart disease	true	Inferred relationship	Some
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Is a	Glycogen storage disease	true	Inferred relationship	Some
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Finding site	Heart structure	false	Inferred relationship	Some	2
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Finding site	Heart structure	true	Inferred relationship	Some	1
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2922245010	Fatal congenital nonlysosomal heart glycogenosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2922252012	Fatal congenital nonlysosomal heart glycogenosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
550111000146112	letale congenitale niet-lysosomale cardiale glycogenose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
550121000146119	letale congenitale niet-lysosomale cardiale glycogeenstapelingsziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4337271000146118	letale congenitale niet-lysosomale cardiale glycogenose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)