724361001: Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)

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

\Viscus structure finding (finding)\Liver finding\Disease of liver\...

\Structural abnormality of liver (disorder)\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)

\Vascular disorder of liver\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)

\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
\Finding of trunk structure\Liver finding\Disease of liver\Vascular disorder of liver\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Vascular disorder of liver\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder of liver\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Severe combined immunodeficiency with low T- and B-cell numbers\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Severe combined immunodeficiency with low T- and B-cell numbers\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Disease of liver\Vascular disorder of liver\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Severe combined immunodeficiency with low T- and B-cell numbers\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder of liver\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Vascular disorder of liver\Abnormality of hepatic vein (disorder)\Veno-occlusive disease of the liver\Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)

Status: current. Date: 31-Jul 2017

Descriptions:

Id Description Lang Type Status Case? Module

3434639011 Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434640013 Hepatic veno-occlusive disease with immunodeficiency syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434641012 VODI (veno-occlusive disease, immunodeficiency) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434642017 VODI syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434643010 Syndrome that is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3434644016 Syndrome that is characterised by the association of severe hypogammaglobulinaemia, combined T and B cell immunodeficiency, absent lymph node germinal centres, absent tissue plasma cells and hepatic veno-occlusive disease. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5403319010 A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403320016 A rare syndrome with combined immunodeficiency characterised by the association of severe hypogammaglobulinaemia, combined T and B cell immunodeficiency, absent lymph node germinal centres, absent tissue plasma cells and hepatic veno-occlusive disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Is a	Severe combined immunodeficiency with low T- and B-cell numbers	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Is a	Veno-occlusive disease of the liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Associated morphology	Obstruction	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Finding site	Structure of hepatic vein	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Finding site	Structure of immune system (body structure)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3434639011	Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434640013	Hepatic veno-occlusive disease with immunodeficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434641012	VODI (veno-occlusive disease, immunodeficiency) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3434642017	VODI syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3434643010	Syndrome that is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3434644016	Syndrome that is characterised by the association of severe hypogammaglobulinaemia, combined T and B cell immunodeficiency, absent lymph node germinal centres, absent tissue plasma cells and hepatic veno-occlusive disease. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403319010	A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403320016	A rare syndrome with combined immunodeficiency characterised by the association of severe hypogammaglobulinaemia, combined T and B cell immunodeficiency, absent lymph node germinal centres, absent tissue plasma cells and hepatic veno-occlusive disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core