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

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

\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anemia\Megaloblastic anemia 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 anemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\RBC count low\Congenital anemia\Megaloblastic anemia 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 anemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\RBC count low\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\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
\Disease\Congenital disease (disorder)\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	erytropeni	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
802501000052111	megaloblastanemi orsakad av medfödda fel i metabolismen	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)