89655007: 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
\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
\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
\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
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\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
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\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
\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia

\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\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

\Leukopenia\Neutropenic disorder\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
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\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
\Disease\Disorder of immune function\White blood cell disorder\Leukopenia\Neutropenic disorder\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
\Disease\Disorder of cellular component of blood\White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia
\Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

148639013 Congenital neutropenia en Synonym Active Entire term case insensitive SNOMED CT core module
148640010 Kostmann's syndrome en Synonym Inactive Entire term case sensitive SNOMED CT core module
148641014 Severe infantile genetic neutropenia en Synonym Active Entire term case insensitive SNOMED CT core module
148642019 Severe infantile genetic agranulocytosis en Synonym Inactive Entire term case insensitive SNOMED CT core module
508614010 Primary neutropenia en Synonym Active Entire term case insensitive SNOMED CT core module
508615011 Infantile genetic agranulocytosis en Synonym Inactive Entire term case insensitive SNOMED CT core module
508616012 Severe congenital neutropenia en Synonym Active Entire term case insensitive SNOMED CT core module
832594014 Congenital neutropenia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital neutropenia	Is a	Neutropenic disorder	true	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Is a	Disorder of phagocytic cell number	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Is a	Quantitative abnormality of granulocytes	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Severity	Severe	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Finding site	Leukocyte	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Finding site	Structure of immune system	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Congenital neutropenia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Associated morphology	White blood cell abnormality	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Has definitional manifestation	Neutropenia	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Is a	Hereditary cancer-predisposing syndrome	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier
Congenital neutropenia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Congenital neutropenia	Interprets	Neutrophil count	true	Inferred relationship	Existential restriction modifier	1
Congenital neutropenia	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital agranulocytosis NEC	Is a	False	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Reticular dysgenesis	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Severe combined immunodeficiency with reticular dysgenesis	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Shwachman syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Periodontitis co-occurrent with infantile genetic agranulocytosis	Is a	False	Congenital neutropenia	Inferred relationship	Existential restriction modifier
X-linked severe congenital neutropenia	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Autosomal dominant severe congenital neutropenia	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Kostmann syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Neutropenia, monocytopenia, deafness syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Congenital neutropenia, myelofibrosis, nephromegaly syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Onycho-tricho-dysplasia neutropenia syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Periodontitis due to infantile genetic agranulocytosis	Due to	False	Congenital neutropenia	Inferred relationship	Existential restriction modifier	2
Periodontitis due to congenital neutropenia	Due to	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier	2
Warts, hypogammaglobulinemia, infections, and myelokathexis	Is a	True	Congenital neutropenia	Inferred relationship	Existential restriction modifier
Congenital agranulocytosis NEC	Is a	False	Congenital neutropenia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
148639013	Congenital neutropenia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
148640010	Kostmann's syndrome	en	Synonym	Inactive	Entire term case sensitive	SNOMED CT core module
148641014	Severe infantile genetic neutropenia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
148642019	Severe infantile genetic agranulocytosis	en	Synonym	Inactive	Entire term case insensitive	SNOMED CT core module
508614010	Primary neutropenia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
508615011	Infantile genetic agranulocytosis	en	Synonym	Inactive	Entire term case insensitive	SNOMED CT core module
508616012	Severe congenital neutropenia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
832594014	Congenital neutropenia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module