1142087002: Congenital megaloblastic anemia due to transcobalamin II deficiency (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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)

\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to metabolic disorder\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Nutritional anemia\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\Disease\Congenital disease (disorder)\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Is a	Nutritional anemia	true	Inferred relationship	Some
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Is a	Megaloblastic anemia due to inborn errors of metabolism	true	Inferred relationship	Some
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Due to	Transcobalamin II deficiency	true	Inferred relationship	Some	4
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Some	5
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	6
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	6
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Is a	Anaemia due to metabolic disorder	true	Inferred relationship	Some

Inbound Relationships

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Active

Source

Characteristic

Refinability

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Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
4536588015	Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4536589011	Congenital megaloblastic anemia due to transcobalamin II deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4536590019	Congenital megaloblastic anaemia due to transcobalamin II deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5079411000052110	kongenital megaloblastanemi orsakad av brist på transkobalamin 2	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)