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770687001: Vasculitis due to adenosine deaminase 2 deficiency (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702118014 Vasculitis due to ADA2 deficiency en Synonym Active Initial character case insensitive SNOMED CT core
3702119018 Vasculitis due to adenosine deaminase 2 deficiency en Synonym Active Case insensitive SNOMED CT core
3702120012 Vasculitis due to adenosine deaminase 2 deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3702121011 Vasculitis due to ADA2 (adenosine deaminase 2) deficiency en Synonym Active Initial character case insensitive SNOMED CT core
3702122016 A rare genetic systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of auto inflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. en Definition Active Case sensitive SNOMED CT core
3702123014 A rare genetic systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of auto inflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischaemic or haemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Vasculitis due to adenosine deaminase 2 deficiency Pathological process Abnormal immune process true Inferred relationship Some 2
Vasculitis due to adenosine deaminase 2 deficiency Associated morphology Inflammatory morphology true Inferred relationship Some 1
Vasculitis due to adenosine deaminase 2 deficiency Is a Inflammatory hereditary disorder false Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency Finding site Blood vessel structure true Inferred relationship Some 1
Vasculitis due to adenosine deaminase 2 deficiency Is a Primary immune deficiency disorder true Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency Is a Vasculitis true Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency Is a Hereditary disorder of immune system true Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency Associated morphology Inflammation false Inferred relationship Some 1

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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