735452003: hereditaire anemie door cobalaminedeficiëntie (aandoening)

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

\Laboratory test finding (finding)\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)

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

\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:

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

6497271000146114 hereditaire anemie door vitamine B12-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6703261000146118 erfelijke bloedarmoede door B12-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11546821000146114 hereditaire anemie door cobalaminedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11552171000146118 hereditaire anemie door cobalaminedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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