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773646003: Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (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 Reference Sets
3725358015 PLCG2-associated antibody deficiency and immune dysregulation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3725359011 PLCG2 (phospholipase C gamma 2) associated antibody deficiency and immune dysregulation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3725360018 Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3725361019 Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3725362014 FACU - familial atypical cold urticaria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3725363016 Familial cold urticaria with common variable immunodeficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3725364010 A rare hereditary immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
3725365011 A rare hereditary immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
PLCG2-associated antibody deficiency and immune dysregulation Is a Autosomal dominant hereditary disorder false Inferred relationship Some
PLCG2-associated antibody deficiency and immune dysregulation Causative agent Low temperature true Inferred relationship Some 1
PLCG2-associated antibody deficiency and immune dysregulation Is a Hereditary disorder of immune system false Inferred relationship Some
PLCG2-associated antibody deficiency and immune dysregulation Associated morphology Urticaria true Inferred relationship Some 1
PLCG2-associated antibody deficiency and immune dysregulation Is a Primary immune deficiency disorder (disorder) true Inferred relationship Some
PLCG2-associated antibody deficiency and immune dysregulation Finding site Skin structure true Inferred relationship Some 1
PLCG2-associated antibody deficiency and immune dysregulation Is a Familial cold urticaria true Inferred relationship Some
PLCG2-associated antibody deficiency and immune dysregulation Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2
PLCG2-associated antibody deficiency and immune dysregulation Associated morphology Inflammatory morphology (morphologic abnormality) false Inferred relationship Some 3
PLCG2-associated antibody deficiency and immune dysregulation Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 2
PLCG2-associated antibody deficiency and immune dysregulation Clinical course (attribute) Recurrent true Inferred relationship Some 4
PLCG2-associated antibody deficiency and immune dysregulation Associated with Fever (finding) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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