34925000: Megaloblastic anemia due to inborn errors of metabolism (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\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\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\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism

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

\Anemia related to disturbed DNA synthesis\anémie mégaloblastique (trouble)\Megaloblastic anaemia due to inborn errors of metabolism

\Macrocytic anemia\anémie mégaloblastique (trouble)\Megaloblastic anaemia due to inborn errors of metabolism

\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism

\Disease\anomalie des éléments figurés du sang (trouble)\anémie\Anemia related to disturbed DNA synthesis\anémie mégaloblastique (trouble)\Megaloblastic anaemia due to inborn errors of metabolism
\Disease\anomalie des éléments figurés du sang (trouble)\anémie\Macrocytic anemia\anémie mégaloblastique (trouble)\Megaloblastic anaemia due to inborn errors of metabolism
\Disease\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Disease\Congenital disease\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism

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
Megaloblastic anaemia due to inborn errors of metabolism	est un(e) (attribut)	Congenital anemia	true	Inferred relationship	Some
Megaloblastic anaemia due to inborn errors of metabolism	est un(e) (attribut)	anémie mégaloblastique (trouble)	true	Inferred relationship	Some
Megaloblastic anaemia due to inborn errors of metabolism	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Megaloblastic anaemia due to inborn errors of metabolism	est défini par la manifestation de (attribut)	Erythropenia	false	Inferred relationship	Some
Megaloblastic anaemia due to inborn errors of metabolism	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
Megaloblastic anaemia due to inborn errors of metabolism	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	2
Megaloblastic anaemia due to inborn errors of metabolism	interprète (attribut)	Red blood cell count	true	Inferred relationship	Some	1
Megaloblastic anaemia due to inborn errors of metabolism	interprète (attribut)	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Megaloblastic anaemia due to inborn errors of metabolism	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Megaloblastic anaemia due to inborn errors of metabolism	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Megaloblastic anaemia due to inborn errors of metabolism	localisation d'une constatation (attribut)	Erythrocyte	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	est un(e) (attribut)	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Thiamine-responsive megaloblastic anemia	est un(e) (attribut)	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Familial megaloblastic anemia	est un(e) (attribut)	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Megaloblastic anaemia due to error of folate metabolism	est un(e) (attribut)	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Juvenile type megaloblastic anaemia	est un(e) (attribut)	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Megaloblastic anemia due to congenital deficiency of intrinsic factor	est un(e) (attribut)	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Megaloblastic anemia due to error of cobalamin metabolism	est un(e) (attribut)	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
486000012	Megaloblastic anaemia due to inborn errors of metabolism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
486001011	Congenital pernicious anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
58281018	Megaloblastic anemia due to inborn errors of metabolism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
58284014	Congenital pernicious anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
766506014	Megaloblastic anemia due to inborn errors of metabolism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core