718882006: X-linked severe congenital neutropenia (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\X-linked severe congenital neutropenia
\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\X-linked severe congenital neutropenia
\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\X-linked severe congenital neutropenia
\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\X-linked severe congenital neutropenia
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia
\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\X-linked severe congenital neutropenia
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia

\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\X-linked severe congenital neutropenia
\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia

\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia

\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\X-linked severe congenital neutropenia

\Leukopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia

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

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3314296017 X-linked severe congenital neutropenia (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3314297014 X-linked severe congenital neutropenia en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked severe congenital neutropenia	Is a	Congenital neutropenia	true	Inferred relationship	Existential restriction modifier
X-linked severe congenital neutropenia	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
X-linked severe congenital neutropenia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
X-linked severe congenital neutropenia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier
X-linked severe congenital neutropenia	Has definitional manifestation	Neutropenia	false	Inferred relationship	Existential restriction modifier
X-linked severe congenital neutropenia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
X-linked severe congenital neutropenia	Interprets	Neutrophil count	true	Inferred relationship	Existential restriction modifier	1
X-linked severe congenital neutropenia	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier
X-linked severe congenital neutropenia	Pathological process	Abnormal immune process	false	Inferred relationship	Existential restriction modifier	3
X-linked severe congenital neutropenia	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
X-linked severe congenital neutropenia	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3314296017	X-linked severe congenital neutropenia (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3314297014	X-linked severe congenital neutropenia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module