68870007: Congenital dyserythropoietic anemia, type II (disorder)

SNOMED CT Concept\constatation clinique\...

\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II

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

\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II

\anémie\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\anémie\anémie causée par une production diminuée d'érythrocytes\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II

\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital dyserythropoietic anemia, type II
\Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Disease\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Disease\anomalie des éléments figurés du sang (trouble)\anémie\anémie causée par une production diminuée d'érythrocytes\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II
\Disease\Congenital disease\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Congenital dyserythropoietic anemia, type II

Status: current, Not 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 dyserythropoietic anemia, type II	est défini par la manifestation de (attribut)	Decreased erythrocyte production	false	Inferred relationship	Some
Congenital dyserythropoietic anemia, type II	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Congenital dyserythropoietic anemia, type II	est défini par la manifestation de (attribut)	Erythropenia	false	Inferred relationship	Some
Congenital dyserythropoietic anemia, type II	est un(e) (attribut)	anémie dysérythropoïétique congénitale (trouble)	true	Inferred relationship	Some
Congenital dyserythropoietic anemia, type II	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital dyserythropoietic anemia, type II	Due to	Decreased erythrocyte production	true	Inferred relationship	Some	3
Congenital dyserythropoietic anemia, type II	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Congenital dyserythropoietic anemia, type II	survenue (attribut)	congénital	true	Inferred relationship	Some	5
Congenital dyserythropoietic anemia, type II	interprète (attribut)	Decreased erythrocyte production	false	Inferred relationship	Some
Congenital dyserythropoietic anemia, type II	localisation d'une constatation (attribut)	Erythrocyte	true	Inferred relationship	Some	4
Congenital dyserythropoietic anemia, type II	interprète (attribut)	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Congenital dyserythropoietic anemia, type II	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	2
Congenital dyserythropoietic anemia, type II	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
Congenital dyserythropoietic anemia, type II	interprète (attribut)	Red blood cell count	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
114389011	Congenital dyserythropoietic anemia, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
114390019	HEMPAS	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233095010	Hereditary erythroblast multinuclearity with positive acid serum test	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233096011	HEMPAS - Hereditary erythroblast multinuclearity with positive acid serum test	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
457641000241114	anémie dysérythropoïétique congénitale type II (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
501113010	Congenital dyserythropoietic anaemia, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
808752017	Congenital dyserythropoietic anemia, type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
875991000172116	anémie dysérythropoïétique congénitale type II	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
947591000172114	anémie dysérythropoïétique congénitale type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)