718882006: neutropénie sévère congénitale liée à l'X (trouble)

SNOMED CT Concept\constatation clinique\...

\Evaluation finding\Measurement finding\...

\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\neutropénie\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Leukopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Neutrophil count abnormal\neutropénie\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\neutropénie\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Leukopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\neutropénie\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Leukopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)

\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\X-linked severe congenital neutropenia (disorder)
\Decreased blood leukocyte number (finding)\Leukopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)

\Neutrophil count abnormal\neutropénie\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)

\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\X-linked severe congenital neutropenia (disorder)

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

\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\X-linked severe congenital neutropenia (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked severe congenital neutropenia (disorder)
\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\X-linked severe congenital neutropenia (disorder)
\Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
\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\X-linked severe congenital neutropenia (disorder)
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Leukopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
\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\X-linked severe congenital neutropenia (disorder)
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Leukopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
\Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

1002561000172117 neutropénie sévère congénitale liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

3314297014 X-linked severe congenital neutropenia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

753261000241110 neutropénie sévère congénitale liée à l'X (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3314318018 This syndrome is an immunodeficiency syndrome with characteristics of recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked severe congenital neutropenia (disorder)	est un(e) (attribut)	syndrome familial avec prédisposition aux cancers (trouble)	true	Inferred relationship	Some
X-linked severe congenital neutropenia (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	3
X-linked severe congenital neutropenia (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked severe congenital neutropenia (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
X-linked severe congenital neutropenia (disorder)	est un(e) (attribut)	Congenital neutropenia	true	Inferred relationship	Some
X-linked severe congenital neutropenia (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
X-linked severe congenital neutropenia (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
X-linked severe congenital neutropenia (disorder)	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
X-linked severe congenital neutropenia (disorder)	est défini par la manifestation de (attribut)	neutropénie	false	Inferred relationship	Some
X-linked severe congenital neutropenia (disorder)	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
X-linked severe congenital neutropenia (disorder)	interprète (attribut)	Neutrophil count	true	Inferred relationship	Some	1

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
1002561000172117	neutropénie sévère congénitale liée à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3314296017	X-linked severe congenital neutropenia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314297014	X-linked severe congenital neutropenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
753261000241110	neutropénie sévère congénitale liée à l'X (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3314318018	This syndrome is an immunodeficiency syndrome with characteristics of recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core