FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

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
4210311000052117 T-cellsimmunbrist med epidermodysplasia verruciformis sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
T-cell immunodeficiency with epidermodysplasia verruciformis Is a Autosomal recessive hereditary disorder true Inferred relationship Some
T-cell immunodeficiency with epidermodysplasia verruciformis Is a Primary immune deficiency disorder true Inferred relationship Some
T-cell immunodeficiency with epidermodysplasia verruciformis Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start