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234591005: Combined phagocytic defect (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
351503014 Combined phagocytic defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
622932011 Combined phagocytic defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2118841000005111 Kombineret fagocytdefekt da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


14 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined phagocytic defect Is a Qualitative abnormality of granulocyte true Inferred relationship Some
Combined phagocytic defect Is a Phagocytic cell dysfunction true Inferred relationship Some
Combined phagocytic defect Finding site Leukocyte false Inferred relationship Some
Combined phagocytic defect Finding site Haematopoietic system structure false Inferred relationship Some
Combined phagocytic defect Finding site Structure of immune system (body structure) true Inferred relationship Some 1
Combined phagocytic defect Finding site Haematopoietic system structure false Inferred relationship Some
Combined phagocytic defect Associated morphology White blood cell abnormality false Inferred relationship Some
Combined phagocytic defect Has definitional manifestation White blood cell finding false Inferred relationship Some
Combined phagocytic defect Has definitional manifestation Immune system finding false Inferred relationship Some
Combined phagocytic defect Is a Disorder of immune structure (disorder) true Inferred relationship Some
Combined phagocytic defect Has definitional manifestation Immune system finding false Inferred relationship Some
Combined phagocytic defect Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Hemolytic erythrophagocytic syndrome Is a True Combined phagocytic defect Inferred relationship Some
Chédiak-Higashi syndrome Is a True Combined phagocytic defect Inferred relationship Some
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. Is a True Combined phagocytic defect Inferred relationship Some

This concept is not in any reference sets

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