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778024005: monocytopénie avec susceptibilité aux infections (trouble)


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
3737272015 Monocyte-B natural killer dendritic cell deficiency syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3737273013 Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infection en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737274019 Monocytopenia and mycobacterial infection syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737275018 Dendritic cell, monocyte, B and NK lymphoid deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3737276017 MonoMAC en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737277014 Monocytopenia with susceptibility to infections en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737278016 Monocytopenia with susceptibility to infections (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
785221000241112 monocytopénie avec susceptibilité aux infections (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
940171000172119 déficit en cellules dendritiques, monocytes, lymphocytes B et NK fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
997841000172113 monocytopénie avec susceptibilité aux infections fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3737279012 A rare genetic primary immunodeficiency disorder with characteristics of profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. Caused by heterozygous mutation in the GATA2 gene on chromosome 3q21. 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
Monocytopenia with susceptibility to infections survenue (attribut) congénital true Inferred relationship Some 1
Monocytopenia with susceptibility to infections est un(e) (attribut) Congenital immunodeficiency disease true Inferred relationship Some
Monocytopenia with susceptibility to infections localisation d'une constatation (attribut) structure du système immunitaire true Inferred relationship Some 1
Monocytopenia with susceptibility to infections est un(e) (attribut) Combined phagocytic defect true Inferred relationship Some
Monocytopenia with susceptibility to infections Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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