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

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

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

\Anaemia due to metabolic disorder\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)

\Anemia related to disturbed DNA synthesis\Megaloblastic anemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)

\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)

\Nutritional anaemia\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)

\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)

\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)

\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\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\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to metabolic disorder\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Anemia related to disturbed DNA synthesis\Megaloblastic anemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Nutritional anaemia\Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Megaloblastic anaemia 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 anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Is a	Megaloblastic anaemia due to inborn errors of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Due to	Transcobalamin II deficiency (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Is a	Anaemia due to metabolic disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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 (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
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
5887241000241114	anémie mégaloblastique congénitale due à un déficit en transcobalamine II	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5887241000241114	anémie mégaloblastique congénitale due à un déficit en transcobalamine II	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module