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778024005: Monocytopenia with susceptibility to infections (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
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
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
4219841000052116 monocytopeni med infektionskänslighet sv Synonym (core metadata concept) Active Entire term case insensitive (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
Monocytopenia with susceptibility to infections Occurrence Congenital true Inferred relationship Some 1
Monocytopenia with susceptibility to infections Is a Congenital immunodeficiency disease true Inferred relationship Some
Monocytopenia with susceptibility to infections Finding site Structure of immune system (body structure) true Inferred relationship Some 1
Monocytopenia with susceptibility to infections Is a 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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