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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702118014 Vasculitis due to ADA2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3702119018 Vasculitis due to adenosine deaminase 2 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702120012 Vasculitis due to adenosine deaminase 2 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702121011 Vasculitis due to ADA2 (adenosine deaminase 2) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2
Vasculitis due to adenosine deaminase 2 deficiency morphologie associée (attribut) Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
Vasculitis due to adenosine deaminase 2 deficiency localisation d'une constatation (attribut) Blood vessel structure (body structure) true Inferred relationship Some 1
Vasculitis due to adenosine deaminase 2 deficiency est un(e) (attribut) Primary immune deficiency disorder (disorder) true Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency est un(e) (attribut) vasculite (trouble) true Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency est un(e) (attribut) Hereditary disorder of immune system true Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency morphologie associée (attribut) inflammation false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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