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

766879006: Combined immunodeficiency due to OX40 deficiency (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3662993011 Combined immunodeficiency due to OX40 deficiency en Synonym Active Initial character case insensitive SNOMED CT core
3662994017 Combined immunodeficiency due to OX40 deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3662996015 Combined immunodeficiency with childhood-onset Kaposi sarcoma en Synonym Active Initial character case insensitive SNOMED CT core
3662997012 A rare combined T and B cell immunodeficiency with characteristics of susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. There is evidence the disease is caused by homozygous mutation in the OX40 gene (TNFRSF4) on chromosome 1p36. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined immunodeficiency due to OX40 deficiency Pathological process Abnormal immune process true Inferred relationship Some 3
Combined immunodeficiency due to OX40 deficiency Is a Hereditary disorder of immune system true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a Disorder of immune structure true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a Combined immunodeficiency disease true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a Hereditary neoplastic syndrome true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Finding site Structure of immune system true Inferred relationship Some 1
Combined immunodeficiency due to OX40 deficiency Occurrence Congenital true Inferred relationship Some 1
Combined immunodeficiency due to OX40 deficiency Due to Chromosomal disorder true Inferred relationship Some 2
Combined immunodeficiency due to OX40 deficiency Is a Immunodeficiency associated with chromosomal abnormality true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a Congenital immunodeficiency disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start