12907000: Thiamine-responsive megaloblastic anemia (disorder)

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

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

\Anemia related to disturbed DNA synthesis\Megaloblastic anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anaemia

\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anaemia

\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anaemia

\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia

\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anaemia
\Disease\Disorder of cellular component of blood\Anaemia\Anemia related to disturbed DNA synthesis\Megaloblastic anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anaemia
\Disease\Disorder of cellular component of blood\Anaemia\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anaemia
\Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anaemia

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 anaemia	Is a	Megaloblastic anaemia due to inborn errors of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Thiamine-responsive megaloblastic anaemia	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thiamine-responsive megaloblastic anaemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thiamine-responsive megaloblastic anaemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Thiamine-responsive megaloblastic anaemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thiamine-responsive megaloblastic anaemia	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thiamine-responsive megaloblastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thiamine-responsive megaloblastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thiamine-responsive megaloblastic anaemia	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thiamine-responsive megaloblastic anaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder)	Is a	True	Thiamine-responsive megaloblastic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)

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
22131011	Thiamine-responsive megaloblastic anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
4432071000241117	anémie mégaloblastique thiamine dépendante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4432071000241117	anémie mégaloblastique thiamine dépendante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module