30188007: Alpha-1-antitrypsin deficiency (disorder)

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\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 organ (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency

\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)\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\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)\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)\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\Inborn error of metabolism\Disorder of glycoprotein metabolism\Alpha-1-antitrypsin deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal recessive hereditary disorder (disorder)\Alpha-1-antitrypsin deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease\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\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\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)\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\Metabolic and genetic disorder affecting the liver\Alpha-1-antitrypsin deficiency
\Disease\Metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\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: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary

Back to Start

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)	IPS terminology module (core metadata concept)
484512015	Alpha-1-antitrypsin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
2735705015	Alpha-1-antitrypsin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)