301317008: Hereditary nonspherocytic hemolytic 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\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia

\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 hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\anémie\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\Hemolytic disorder\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\constatation à propos du sang, des lymphatiques et du système immunitaire\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia

\constatation fonctionnelle\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Disease\anomalie des éléments figurés du sang (trouble)\anémie\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Disease\anomalie des éléments figurés du sang (trouble)\Hemolytic disorder\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia
\Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia

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
Hereditary nonspherocytic haemolytic anaemia	a pour interprétation (attribut)	présent (valeur de l'attribut)	true	Inferred relationship	Some	3
Hereditary nonspherocytic haemolytic anaemia	interprète (attribut)	Hemolysis (observable entity)	true	Inferred relationship	Some	3
Hereditary nonspherocytic haemolytic anaemia	est un(e) (attribut)	Hemolytic anemia	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	est défini par la manifestation de (attribut)	Erythropenia	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	est un(e) (attribut)	anémie hémolytique héréditaire	true	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	est défini par la manifestation de (attribut)	Hemolysis	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	localisation d'une constatation (attribut)	Erythrocyte	true	Inferred relationship	Some	4
Hereditary nonspherocytic haemolytic anaemia	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
Hereditary nonspherocytic haemolytic anaemia	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	2
Hereditary nonspherocytic haemolytic anaemia	interprète (attribut)	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Hereditary nonspherocytic haemolytic anaemia	interprète (attribut)	Red blood cell count	true	Inferred relationship	Some	2
Hereditary nonspherocytic haemolytic anaemia	interprète (attribut)	Erythrocyte destruction, function (observable entity)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
HNSHA due to aldolase A deficiency	est un(e) (attribut)	False	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to phosphofructokinase deficiency	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to phosphoglycerate kinase deficiency	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to NADH-methemoglobin reductase deficiency	est un(e) (attribut)	False	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to decreased adenosine deaminase activity	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Lethal hemolytic anemia and genital anomaly syndrome (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hemolytic anemia due to adenylate kinase deficiency (disorder)	est un(e) (attribut)	True	Hereditary nonspherocytic haemolytic anaemia	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
1226960012	HNSHA	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
442590010	Hereditary nonspherocytic haemolytic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
442591014	Congenital nonspherocytic hemolytic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
442592019	Hereditary nonspherocytic hemolytic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
442593012	Congenital nonspherocytic haemolytic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
697100013	Hereditary nonspherocytic hemolytic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core