1142087002: Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Evaluation finding\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 anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Evaluation finding\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\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency

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

\Anemia due to metabolic disorder\Congenital megaloblastic anemia due to transcobalamin II deficiency

\Anemia related to disturbed deoxyribonucleic acid synthesis\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency

\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency

\Nutritional anemia\Congenital megaloblastic anemia due to transcobalamin II deficiency

\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency

\Disease\Disorder of cellular component of blood\Anemia\Anemia due to metabolic disorder\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Disease\Disorder of cellular component of blood\Anemia\Anemia related to disturbed deoxyribonucleic acid synthesis\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Disease\Disorder of cellular component of blood\Anemia\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Disease\Disorder of cellular component of blood\Anemia\Nutritional anemia\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Disease\Disorder of cellular component of blood\Anemia\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency
\Disease\Congenital disease\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency

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

Descriptions:

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 SNOMED CT core module

4536589011 Congenital megaloblastic anemia due to transcobalamin II deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

4536590019 Congenital megaloblastic anaemia due to transcobalamin II deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
4536589011	Congenital megaloblastic anemia due to transcobalamin II deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4536590019	Congenital megaloblastic anaemia due to transcobalamin II deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module