30188007: alfa-1-antitrypsinedeficiëntie (aandoening)

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

\Viscus structure finding (finding)\Lung finding\Disorder of lung (disorder)\Alpha-1-antitrypsin deficiency
\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency

\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Alpha-1-antitrypsin deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Alpha-1-antitrypsin deficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of lung (disorder)\Alpha-1-antitrypsin deficiency
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Lung finding\Disorder of lung (disorder)\Alpha-1-antitrypsin deficiency
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of lung (disorder)\Alpha-1-antitrypsin deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of lung (disorder)\Alpha-1-antitrypsin deficiency

\Respiratory finding\Lower respiratory tract finding\Lung finding\Disorder of lung (disorder)\Alpha-1-antitrypsin deficiency
\Respiratory finding\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\Disorder of lung (disorder)\Alpha-1-antitrypsin deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Alpha-1-antitrypsin deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Alpha-1-antitrypsin deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alpha-1-antitrypsin deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Alpha-1-antitrypsin deficiency
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Alpha-1-antitrypsin deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Alpha-1-antitrypsin deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Alpha-1-antitrypsin deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Alpha-1-antitrypsin deficiency
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\Disorder of lung (disorder)\Alpha-1-antitrypsin deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of lung (disorder)\Alpha-1-antitrypsin deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Alpha-1-antitrypsin deficiency
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Disease\Metabolic disease\Enzymopathy\Alpha-1-antitrypsin deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alpha-1-antitrypsin deficiency	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	Disorder of glycoprotein metabolism	true	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	Congenital anomaly of lung	false	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Occurrence	Congenital	true	Inferred relationship	Some	3
Alpha-1-antitrypsin deficiency	Finding site	Lung structure	true	Inferred relationship	Some	2
Alpha-1-antitrypsin deficiency	Finding site	Liver structure	true	Inferred relationship	Some	1
Alpha-1-antitrypsin deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	Disorder of lung (disorder)	true	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Panniculitis due to alpha-1 anti-trypsin deficiency (disorder)	Associated etiologic finding	False	Alpha-1-antitrypsin deficiency	Inferred relationship	Some
Alpha-1-antitrypsin hepatitis	Associated with	True	Alpha-1-antitrypsin deficiency	Inferred relationship	Some	2
Panniculitis due to alpha-1 anti-trypsin deficiency (disorder)	Due to	True	Alpha-1-antitrypsin deficiency	Inferred relationship	Some	2
Family history of alpha-1-antitrypsin deficiency (situation)	Associated finding	False	Alpha-1-antitrypsin deficiency	Inferred relationship	Some	1
Family history of alpha-1-antitrypsin deficiency (situation)	Associated finding	True	Alpha-1-antitrypsin deficiency	Inferred relationship	Some	1
Family history of alpha-1-antitrypsin deficiency (situation)	Associated finding	False	Alpha-1-antitrypsin deficiency	Inferred relationship	Some	1

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
50517013	alpha-1-Proteinase inhibitor deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
484512015	Alpha-1-antitrypsin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2735705015	Alpha-1-antitrypsin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
126801000146110	alfa-1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
344791000146114	alfa-1-antitrypsinedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
344801000146113	alfa-1-antitrypsinedeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10652421000146110	alpha-1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7527241000146116	Dit is een erfelijke stoornis in de productie van een bepaald eiwit in de lever. Het leidt tot verschrompeling van de lever (levercirrose) bij kinderen en tot longaandoeningen bij volwassenen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)