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89655007: Congenital neutropenia (disorder)

SNOMED CT Concept\constatation clinique\...

\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)\neutropénie\Neutropenic disorder\Congenital neutropenia
\Decreased blood leukocyte number (finding)\Leukopenia\Neutropenic disorder\Congenital neutropenia

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

\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\...

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

\Leukopenia\Neutropenic disorder\Congenital neutropenia

\Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia
\Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Congenital neutropenia
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Leukopenia\Neutropenic disorder\Congenital neutropenia
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Leukopenia\Neutropenic disorder\Congenital neutropenia
\Disease\Congenital disease\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	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3
Congenital neutropenia	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Congenital neutropenia	morphologie associée (attribut)	White blood cell abnormality	false	Inferred relationship	Some
Congenital neutropenia	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
Congenital neutropenia	est défini par la manifestation de (attribut)	constatation à propos des leucocytes	false	Inferred relationship	Some
Congenital neutropenia	est défini par la manifestation de (attribut)	neutropénie	false	Inferred relationship	Some
Congenital neutropenia	est un(e) (attribut)	Neutropenic disorder	true	Inferred relationship	Some
Congenital neutropenia	est un(e) (attribut)	Congenital immunodeficiency disease	true	Inferred relationship	Some
Congenital neutropenia	est un(e) (attribut)	anomalie congénitale du système hématopoïétique	false	Inferred relationship	Some
Congenital neutropenia	est un(e) (attribut)	Disorder of phagocytic cell number	false	Inferred relationship	Some
Congenital neutropenia	est un(e) (attribut)	Quantitative abnormality of granulocytes	false	Inferred relationship	Some
Congenital neutropenia	est un(e) (attribut)	syndrome familial avec prédisposition aux cancers (trouble)	false	Inferred relationship	Some
Congenital neutropenia	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
Congenital neutropenia	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
Congenital neutropenia	interprète (attribut)	Neutrophil count	true	Inferred relationship	Some	1
Congenital neutropenia	gravité (attribut)	grave	false	Inferred relationship	Some
Congenital neutropenia	localisation d'une constatation (attribut)	Leucocyte	false	Inferred relationship	Some
Congenital neutropenia	localisation d'une constatation (attribut)	structure du système immunitaire	false	Inferred relationship	Some
Congenital neutropenia	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Congenital neutropenia	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some

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

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
508614010	Primary neutropenia	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