30188007: Alpha-1-antitrypsin deficiency (disorder)

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

\Viscus structure finding (finding)\Liver finding\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)\Alpha-1-antitrypsin deficiency
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Alpha-1-antitrypsin deficiency
\Finding of trunk structure\Liver finding\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)\Alpha-1-antitrypsin deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\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\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alpha-1-antitrypsin deficiency
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Alpha-1-antitrypsin deficiency
\Disease\Disorder of body system\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)\Alpha-1-antitrypsin deficiency
\Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\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. Date: 31-Jan 2002

Descriptions:

Id Description Lang Type Status Case? Module

50516016 alpha-1-Antitrypsin deficiency en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
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
761164017 alpha-1-Antitrypsin deficiency (disorder) en Fully specified name Inactive Entire term case sensitive (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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alpha-1-antitrypsin deficiency	Is a	Disorder of thorax (disorder)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Alpha-1-antitrypsin deficiency	Is a	Metabolic and genetic disorder affecting the liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Alpha-1-antitrypsin deficiency	Is a	Disorder of glycoprotein metabolism	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Alpha-1-antitrypsin deficiency	Is a	Enzymopathy	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Alpha-1-antitrypsin deficiency	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Alpha-1-antitrypsin deficiency	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Alpha-1-antitrypsin deficiency	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Alpha-1-antitrypsin deficiency	Finding site	Lung structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Alpha-1-antitrypsin hepatitis	Associated with	True	Alpha-1-antitrypsin deficiency	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

This concept is not in any reference sets