34925000: Megaloblastic anemia due to inborn errors of metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\...

\Anemia related to disturbed DNA synthesis\Megaloblastic anemia\Megaloblastic anaemia due to inborn errors of metabolism

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

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

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Disease\Disorder of cellular component of blood\Anaemia\Anemia related to disturbed DNA synthesis\Megaloblastic anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Disease\Disorder of cellular component of blood\Anaemia\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anaemia due to inborn errors of metabolism
\Disease\Disorder of cellular component of blood\Anaemia\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	Is a	Congenital anemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megaloblastic anaemia due to inborn errors of metabolism	Is a	Megaloblastic anemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megaloblastic anaemia due to inborn errors of metabolism	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Megaloblastic anaemia due to inborn errors of metabolism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Megaloblastic anaemia due to inborn errors of metabolism	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Megaloblastic anaemia due to inborn errors of metabolism	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Megaloblastic anaemia due to inborn errors of metabolism	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Megaloblastic anaemia due to inborn errors of metabolism	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megaloblastic anaemia due to inborn errors of metabolism	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Megaloblastic anaemia due to inborn errors of metabolism	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megaloblastic anaemia due to inborn errors of metabolism	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Thiamine-responsive megaloblastic anaemia	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial megaloblastic anemia	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Megaloblastic anemia due to error of folate metabolism	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile type megaloblastic anemia (disorder)	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Megaloblastic anaemia due to congenital deficiency of intrinsic factor	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Megaloblastic anaemia due to error of cobalamin metabolism	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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
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
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
58281018	Megaloblastic anemia due to inborn errors of metabolism	en	Synonym (core metadata concept)	Active	Only initial character 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	Only initial character 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
486000012	Megaloblastic anaemia due to inborn errors of metabolism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
766506014	Megaloblastic anemia due to inborn errors of metabolism (disorder)	en	Fully specified name	Active	Only initial character 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
6339721000241114	anémie mégaloblastique due à des erreurs innées du métabolisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6339721000241114	anémie mégaloblastique due à des erreurs innées du métabolisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module