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


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3434639011 Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3434640013 Hepatic veno-occlusive disease with immunodeficiency syndrome en Synonym Active Case insensitive SNOMED CT core
3434641012 VODI (veno-occlusive disease, immunodeficiency) syndrome en Synonym Active Case sensitive SNOMED CT core
3434642017 VODI syndrome en Synonym Active Case sensitive 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 Active Case sensitive 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 Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hepatic veno-occlusive disease with immunodeficiency syndrome Pathological process Abnormal immune process true Inferred relationship Some 2
Hepatic veno-occlusive disease with immunodeficiency syndrome Is a Severe combined immunodeficiency with low T- and B-cell numbers true Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome Finding site Structure of immune system true Inferred relationship Some 2
Hepatic veno-occlusive disease with immunodeficiency syndrome Finding site Structure of hepatic vein true Inferred relationship Some 1
Hepatic veno-occlusive disease with immunodeficiency syndrome Occurrence Congenital true Inferred relationship Some 2
Hepatic veno-occlusive disease with immunodeficiency syndrome Associated morphology Obstruction true Inferred relationship Some 1
Hepatic veno-occlusive disease with immunodeficiency syndrome Is a Veno-occlusive disease of the liver true Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome Is a Autosomal recessive SCID (severe combined immunodeficiency disease) true Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome Is a Congenital vascular disorder false Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome Has definitional manifestation Immune system finding false Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome Associated morphology Obstruction false Inferred relationship Some 3
Hepatic veno-occlusive disease with immunodeficiency syndrome Occurrence Congenital false Inferred relationship Some 3
Hepatic veno-occlusive disease with immunodeficiency syndrome Finding site Structure of hepatic vein false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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