63565007: Congenital anemia (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
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia
\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
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia

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

\Disease\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia
\Disease\Congenital disease\Congenital anemia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anemia	est un(e) (attribut)	Hemoglobin low	true	Inferred relationship	Some
Congenital anemia	est un(e) (attribut)	numération des globules rouges basse (constatation)	true	Inferred relationship	Some
Congenital anemia	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Congenital anemia	est défini par la manifestation de (attribut)	Erythropenia	false	Inferred relationship	Some
Congenital anemia	est un(e) (attribut)	anomalie congénitale du système hématopoïétique	false	Inferred relationship	Some
Congenital anemia	est un(e) (attribut)	anémie	true	Inferred relationship	Some
Congenital anemia	est un(e) (attribut)	Congenital disease	true	Inferred relationship	Some
Congenital anemia	est un(e) (attribut)	anomalie des éléments figurés du sang (trouble)	false	Inferred relationship	Some
Congenital anemia	localisation d'une constatation (attribut)	Erythrocyte	false	Inferred relationship	Some
Congenital anemia	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Congenital anemia	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Congenital anemia	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
Congenital anemia	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	2
Congenital anemia	interprète (attribut)	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Congenital anemia	interprète (attribut)	Red blood cell count	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Constitutional aplastic anaemia	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
purpura thrombopénique congénital	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Autosomal dominant sideroblastic anemia (disorder)	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Thalassemia in mother complicating childbirth	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Gamma delta beta thalassemia	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Thalassemia in mother complicating pregnancy	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Haemoglobin Bart's hydrops syndrome	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Alpha thalassemia X-linked intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Epsilon gamma delta beta^0^ thalassemia	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Alpha plus thalassemia non deletion type (disorder)	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Alpha plus thalassaemia deletion type	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Unstable hemoglobin disease	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Megaloblastic anaemia due to inborn errors of metabolism	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Congenital haemolytic anaemia	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
anémie dysérythropoïétique congénitale (trouble)	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Anaemia following foetal blood loss	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder)	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Hereditary sideroblastic anemia	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
HNSHA due to NADH-methemoglobin reductase deficiency	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Plummer-Vinson syndrome	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis (disorder)	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Congenital folate malabsorption anaemia	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Congenital deficiency of intrinsic factor	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Biermer's congenital pernicious anaemia	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Congenital pure red cell aplasia	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Congenital red cell hypoplasia	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Congenital transferrin deficiency	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Pearson's syndrome	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
atransferrinémie congénitale	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Congenital hypoplastic anemia	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Congenital anemia from fetal blood loss	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Congenital hemolytic uremic syndrome (disorder)	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
[X]Other congenital anemias, not elsewhere classified	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Autosomal recessive sideroblastic anemia (disorder)	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Lethal hemolytic anemia and genital anomaly syndrome (disorder)	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
Physiological anemia of infancy	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Late anaemia of newborn	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
thalassémie	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some
X chromosome-linked sideroblastic anemia (disorder)	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
syndrome d'anémie sidéroblastique congénitale, déficit immunitaire à cellules B-fièvre périodique, retard de développement	est un(e) (attribut)	True	Congenital anemia	Inferred relationship	Some
Sickle cell-hemoglobin SS disease	est un(e) (attribut)	False	Congenital anemia	Inferred relationship	Some

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
105647010	Congenital anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
123341000077113	anémie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
395641000077115	anémie congénitale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
499626019	Congenital anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
802862013	Congenital anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core