12907000: Thiamine-responsive megaloblastic anemia (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\Thiamine-responsive megaloblastic anemia
\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\Thiamine-responsive megaloblastic anemia
\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\Thiamine-responsive megaloblastic anemia
\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\Thiamine-responsive megaloblastic anemia
\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\Thiamine-responsive megaloblastic anemia
\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\Thiamine-responsive megaloblastic anemia
\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\Thiamine-responsive megaloblastic anemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia

\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\Thiamine-responsive megaloblastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia
\Disease\Congenital disease (disorder)\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thiamine-responsive megaloblastic anemia	Is a	Megaloblastic anemia due to inborn errors of metabolism	true	Inferred relationship	Some
Thiamine-responsive megaloblastic anemia	Finding site	Erythrocyte	false	Inferred relationship	Some
Thiamine-responsive megaloblastic anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Thiamine-responsive megaloblastic anemia	Occurrence	Congenital	true	Inferred relationship	Some	3
Thiamine-responsive megaloblastic anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Thiamine-responsive megaloblastic anemia	Has definitional manifestation	erytropeni	false	Inferred relationship	Some
Thiamine-responsive megaloblastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Thiamine-responsive megaloblastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Thiamine-responsive megaloblastic anemia	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Thiamine-responsive megaloblastic anemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Is a	True	Thiamine-responsive megaloblastic anemia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
22131011	Thiamine-responsive megaloblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
474727013	Thiamine-responsive megaloblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
733145011	Thiamine-responsive megaloblastic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1823691000052118	megaloblastanemi som svarar på tiaminbehandling	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)