1386284002: Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\...
• \Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \White blood cell number - finding\White blood cell count outside reference range\...
• \Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia\Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2026. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
6148141010	Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6148142015	Autosomal dominant severe congenital neutropenia due to GFI1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6148143013	Autosomal dominant severe congenital neutropenia due to growth factor independent 1 transcriptional repressor gene mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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