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766879006: déficit immunitaire combiné par déficit en OX40 (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3662994017 Combined immunodeficiency due to OX40 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3662996015 Combined immunodeficiency with childhood-onset Kaposi sarcoma en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
768531000241118 déficit immunitaire combiné par déficit en OX40 (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
891721000172114 déficit immunitaire combiné par déficit en OX40 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
950841000172117 déficit immunitaire combiné associé à l'HHV-8 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) 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 (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3
Combined immunodeficiency due to OX40 deficiency est un(e) (attribut) Hereditary disorder of immune system true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency est un(e) (attribut) Disorder of immune structure (disorder) true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency est un(e) (attribut) Combined immunodeficiency disease true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency est un(e) (attribut) syndrome familial avec prédisposition aux cancers (trouble) true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency localisation d'une constatation (attribut) structure du système immunitaire true Inferred relationship Some 1
Combined immunodeficiency due to OX40 deficiency survenue (attribut) congénital true Inferred relationship Some 1
Combined immunodeficiency due to OX40 deficiency Due to anomalie chromosomique true Inferred relationship Some 2
Combined immunodeficiency due to OX40 deficiency est un(e) (attribut) Immunodeficiency associated with chromosomal abnormality true Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency est un(e) (attribut) Congenital immunodeficiency disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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