FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

1179284005: Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4650473014 Severe combined immunodeficiency due to LAT (linker for activation of T cells) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4650474015 Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4650475019 Severe combined immunodeficiency due to linker for activation of T cells deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4650476018 Severe combined immunodeficiency due to LAT deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4650477010 A rare severe combined immunodeficiency characterised by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, haematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650478017 A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly. 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
Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder) Is a Autosomal recessive severe combined immunodeficiency disease (disorder) true Inferred relationship Some
Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder) Occurrence Congenital true Inferred relationship Some 1
Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder) Finding site Body system structure true Inferred relationship Some 1
Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder) 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