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 (disorder)\Anemia\...

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

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

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

\Procedure related finding\Evaluation finding\...

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

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

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

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

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