30188007: Alpha-1-antitrypsin deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Digestive system finding\Liver finding\Liver disease\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\Liver disease\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\Liver disease\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\Liver disease\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\Liver disease\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\Pulmonary disease\Alpha-1 antitrypsin deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Lung finding\Pulmonary disease\Alpha-1 antitrypsin deficiency
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Pulmonary disease\Alpha-1 antitrypsin deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\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\Pulmonary disease\Alpha-1 antitrypsin deficiency

\Respiratory finding\Lower respiratory tract finding\Lung finding\Pulmonary disease\Alpha-1 antitrypsin deficiency
\Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Alpha-1 antitrypsin deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\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\Liver disease\Metabolic and genetic disorder affecting the liver\Alpha-1 antitrypsin deficiency
\Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Alpha-1 antitrypsin deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Alpha-1 antitrypsin deficiency
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Alpha-1 antitrypsin deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\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\Glycoprotein metabolism disorder\Alpha-1 antitrypsin deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2030701000168115 A1AT (alpha-1 antitrypsin) deficiency en Synonym Active Case sensitive SNOMED Clinical Terms Australian extension
2030721000168112 Alpha-1 antitrypsin deficiency en Synonym Active Initial character case insensitive SNOMED Clinical Terms Australian extension
2735705015 Alpha-1-antitrypsin deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core
484512015 Alpha-1-antitrypsin deficiency en Synonym Active Case insensitive SNOMED CT core
50516016 alpha-1-Antitrypsin deficiency en Synonym Inactive Case sensitive SNOMED CT core
50517013 alpha-1-Proteinase inhibitor deficiency en Synonym Active Case sensitive SNOMED CT core
761164017 alpha-1-Antitrypsin deficiency (disorder) en Fully specified name Inactive Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alpha-1 antitrypsin deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Alpha-1 antitrypsin deficiency	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Alpha-1 antitrypsin deficiency	Is a	Glycoprotein metabolism disorder	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	true	Inferred relationship	Some
Alpha-1 antitrypsin deficiency	Is a	Pulmonary disease	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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Panniculitis due to alpha-1 antitrypsin deficiency	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 antitrypsin deficiency	Due to	True	Alpha-1 antitrypsin deficiency	Inferred relationship	Some	2
Family history of alpha-1-antitrypsin deficiency	Associated finding	False	Alpha-1 antitrypsin deficiency	Inferred relationship	Some	1
Family history of alpha-1-antitrypsin deficiency	Associated finding	True	Alpha-1 antitrypsin deficiency	Inferred relationship	Some	1
Family history of alpha-1-antitrypsin deficiency	Associated finding	False	Alpha-1 antitrypsin deficiency	Inferred relationship	Some	1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2030701000168115	A1AT (alpha-1 antitrypsin) deficiency	en	Synonym	Active	Case sensitive	SNOMED Clinical Terms Australian extension
2030721000168112	Alpha-1 antitrypsin deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
2735705015	Alpha-1-antitrypsin deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
484512015	Alpha-1-antitrypsin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
50516016	alpha-1-Antitrypsin deficiency	en	Synonym	Inactive	Case sensitive	SNOMED CT core
50517013	alpha-1-Proteinase inhibitor deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
761164017	alpha-1-Antitrypsin deficiency (disorder)	en	Fully specified name	Inactive	Case sensitive	SNOMED CT core