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770785002: T-cell immunodeficiency due to ras homolog family member H 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
3702782013 T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702783015 T-cell immunodeficiency with epidermodysplasia verruciformis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702784014 T-cell immunodeficiency due to RHOH deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702786011 T-cell immunodeficiency due to ras homolog family member H deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702787019 T-cell immunodeficiency due to ras homolog family member H deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702785010 A rare primary immunodeficiency with characteristics of increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. 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
T-cell immunodeficiency with epidermodysplasia verruciformis Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
T-cell immunodeficiency with epidermodysplasia verruciformis est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
T-cell immunodeficiency with epidermodysplasia verruciformis est un(e) (attribut) Primary immune deficiency disorder (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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