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89655007: Congenital neutropenia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Evaluation finding\Measurement finding\...

\White blood cell number - finding\White blood cell count abnormal (finding)\...

\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia
\Decreased blood leukocyte number (finding)\Leucopenia\Neutropenic disorder\Congenital neutropenia

\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital agranulocytosis NEC	Is a	False	Congenital neutropenia	Inferred relationship	Some
Reticular dysgenesis	Is a	True	Congenital neutropenia	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	True	Congenital neutropenia	Inferred relationship	Some
Shwachman syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Some
parodontit samtidig med infantil genetisk agranulocytos	Is a	False	Congenital neutropenia	Inferred relationship	Some
X-linked severe congenital neutropenia (disorder)	Is a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal dominant severe congenital neutropaenia	Is a	True	Congenital neutropenia	Inferred relationship	Some
Kostmann syndrome (disorder)	Is a	True	Congenital neutropenia	Inferred relationship	Some
Neutropenia, monocytopenia, deafness syndrome (disorder)	Is a	True	Congenital neutropenia	Inferred relationship	Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)	Is a	True	Congenital neutropenia	Inferred relationship	Some
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)	Is a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)	Is a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Is a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	Is a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	Is a	True	Congenital neutropenia	Inferred relationship	Some
Onycho-tricho-dysplasia neutropenia syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Some
Periodontitis due to infantile genetic agranulocytosis (disorder)	Due to	True	Congenital neutropenia	Inferred relationship	Some	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
148639013	Congenital neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
148641014	Severe infantile genetic neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
148642019	Severe infantile genetic agranulocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508614010	Primary neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508615011	Infantile genetic agranulocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508616012	Severe congenital neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
832594014	Congenital neutropenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1298671000052111	kongenital neutropeni	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)