735452003: Hereditary vitamin B12 deficiency anemia (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 vitamin B>12< deficiency\Hereditary vitamin B12 deficiency anemia (disorder)

\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anemia due to vitamin B>12< deficiency\Hereditary vitamin B12 deficiency anemia (disorder)

\Nutritional anemia\Megaloblastic anemia due to vitamin B>12< deficiency\Hereditary vitamin B12 deficiency anemia (disorder)

\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)\Hereditary vitamin B12 deficiency anemia (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary vitamin B12 deficiency anemia (disorder)
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary vitamin B12 deficiency anemia (disorder)

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary vitamin B12 deficiency anemia (disorder)
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary vitamin B12 deficiency anemia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary vitamin B12 deficiency anemia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia related to disturbed DNA synthesis\Megaloblastic anemia\Megaloblastic anemia due to vitamin B>12< deficiency\Hereditary vitamin B12 deficiency anemia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anemia due to vitamin B>12< deficiency\Hereditary vitamin B12 deficiency anemia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Nutritional anemia\Megaloblastic anemia due to vitamin B>12< deficiency\Hereditary vitamin B12 deficiency anemia (disorder)
\Disease\Nutritional deficiency associated condition\Megaloblastic anemia due to vitamin B>12< deficiency\Hereditary vitamin B12 deficiency anemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary vitamin B12 deficiency anemia (disorder)	Due to	Cobalamin deficiency	true	Inferred relationship	Some	2
Hereditary vitamin B12 deficiency anemia (disorder)	Is a	Hereditary disease	true	Inferred relationship	Some
Hereditary vitamin B12 deficiency anemia (disorder)	Is a	Megaloblastic anemia due to vitamin B>12< deficiency	true	Inferred relationship	Some
Hereditary vitamin B12 deficiency anemia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Hereditary vitamin B12 deficiency anemia (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	3
Hereditary vitamin B12 deficiency anemia (disorder)	Has interpretation	Below reference range	false	Inferred relationship	Some	4
Hereditary vitamin B12 deficiency anemia (disorder)	Interprets	Red blood cell count	false	Inferred relationship	Some	4
Hereditary vitamin B12 deficiency anemia (disorder)	Is a	Hemoglobin below reference range (finding)	true	Inferred relationship	Some

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
3514569011	Hereditary vitamin B12 deficiency anemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3514570012	Hereditary vitamin B12 deficiency anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3514571011	Hereditary vitamin B12 deficiency anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
12762361000172113	anémie héréditaire par carence en vitamine B12	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12762371000172116	anémie héréditaire par carence en cobalamine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4496941000172111	hereditaire anemie door vitamine B12-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4496951000172113	erfelijke bloedarmoede door B12-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4496961000172110	hereditaire anemie door cobalaminedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)