30188007: Alpha-1-antitrypsin deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Digestive system finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Alpha-1-antitrypsin deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency

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

\Respiratory finding\Lower respiratory tract finding\Lung finding\Disorder of lung\Alpha-1-antitrypsin deficiency
\Respiratory finding\Disorder of respiratory system\Disorder of lower respiratory system\Disorder of lung\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\Alpha-1-antitrypsin deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alpha-1-antitrypsin deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Alpha-1-antitrypsin deficiency
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Alpha-1-antitrypsin deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Disease\Disorder of body system\Disorder of respiratory system\Disorder of lower respiratory system\Disorder of lung\Alpha-1-antitrypsin deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of lung\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
\Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Alpha-1-antitrypsin deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

50517013 alpha-1-Proteinase inhibitor deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

484512015 Alpha-1-antitrypsin deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

2735705015 Alpha-1-antitrypsin deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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	Existential restriction modifier
Alpha-1-antitrypsin deficiency	Is a	Disorder of glycoprotein metabolism	true	Inferred relationship	Existential restriction modifier
Alpha-1-antitrypsin deficiency	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier
Alpha-1-antitrypsin deficiency	Is a	Congenital anomaly of lung	false	Inferred relationship	Existential restriction modifier
Alpha-1-antitrypsin deficiency	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Existential restriction modifier
Alpha-1-antitrypsin deficiency	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Existential restriction modifier
Alpha-1-antitrypsin deficiency	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Alpha-1-antitrypsin deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Alpha-1-antitrypsin deficiency	Finding site	Lung structure	true	Inferred relationship	Existential restriction modifier	2
Alpha-1-antitrypsin deficiency	Finding site	Liver structure	true	Inferred relationship	Existential restriction modifier	1
Alpha-1-antitrypsin deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Alpha-1-antitrypsin deficiency	Is a	Disorder of lung	true	Inferred relationship	Existential restriction modifier

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
50517013	alpha-1-Proteinase inhibitor deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
484512015	Alpha-1-antitrypsin deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2735705015	Alpha-1-antitrypsin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module