770942003: Kostmann syndrome (disorder)

SNOMED CT Concept\Clinical 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\Neutropenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\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\Kostmann syndrome
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome

\Finding of white blood cell number\White blood cell count outside reference range\...

\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome

\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\White blood cell disorder\...

\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome

\Leukopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Kostmann syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Kostmann syndrome
\Disease\Disorder of immune function\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\Kostmann syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Kostmann syndrome
\Disease\Disorder of immune function\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Disease\Disorder of immune function\White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Disease\Disorder of cellular component of blood\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Disease\Disorder of cellular component of blood\White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Kostmann syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3703544011 Severe congenital neutropenia type 3 en Synonym Active Entire term case insensitive SNOMED CT core module
3703545012 Kostmann syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3703546013 Kostmann syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3703547016 Severe congenital neutropaenia type 3 en Synonym Active Entire term case insensitive SNOMED CT core module
5014348019 Infantile agranulocytosis en Synonym Active Entire term case insensitive SNOMED CT core module
5014349010 Infantile genetic agranulocytosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kostmann syndrome	Is a	Congenital neutropenia	true	Inferred relationship	Existential restriction modifier
Kostmann syndrome	Interprets	Neutrophil count	true	Inferred relationship	Existential restriction modifier	1
Kostmann syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Kostmann syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Kostmann syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Kostmann syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier
Kostmann syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Periodontitis due to infantile genetic agranulocytosis	Due to	True	Kostmann syndrome	Inferred relationship	Existential restriction modifier	2

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3703544011	Severe congenital neutropenia type 3	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3703545012	Kostmann syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3703546013	Kostmann syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3703547016	Severe congenital neutropaenia type 3	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5014348019	Infantile agranulocytosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5014349010	Infantile genetic agranulocytosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module