234353009: Congenital transferrin deficiency (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\...

\Microcytic anemia\Congenital transferrin deficiency

\Congenital anemia\Congenital transferrin deficiency

\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency

\Procedure related finding\Evaluation finding\...

\Microscopic specimen observation (finding)\Microcytosis\Microcytic anemia\Congenital transferrin deficiency

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency
\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency
\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Microcytic anemia\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Microcytic anemia\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Microcytic anemia\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Microcytic anemia\Congenital transferrin deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital transferrin deficiency

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency
\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency
\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency
\Hematopoietic system finding\Microcytosis\Microcytic anemia\Congenital transferrin deficiency

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital transferrin deficiency
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Microcytic anemia\Congenital transferrin deficiency
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital transferrin deficiency
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency
\Disease\Congenital disease (disorder)\Congenital anemia\Congenital transferrin deficiency

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
Congenital transferrin deficiency	Is a	Microcytic anemia	true	Inferred relationship	Some
Congenital transferrin deficiency	Finding site	Erythrocyte	false	Inferred relationship	Some
Congenital transferrin deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Congenital transferrin deficiency	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Congenital transferrin deficiency	Has definitional manifestation	Microcytosis	false	Inferred relationship	Some
Congenital transferrin deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Congenital transferrin deficiency	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Congenital transferrin deficiency	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital transferrin deficiency	Is a	Congenital anemia	true	Inferred relationship	Some
Congenital transferrin deficiency	Is a	Anemia due to disturbance of hemoglobin synthesis	true	Inferred relationship	Some
Congenital transferrin deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital transferrin deficiency	Is a	Hereditary red blood cell disorder (disorder)	false	Inferred relationship	Some
Congenital transferrin deficiency	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Congenital transferrin deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital transferrin deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Congenital transferrin deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Congenital transferrin deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Congenital transferrin deficiency	Interprets	Red blood cell size determination	true	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital atransferrinemia	Is a	True	Congenital transferrin deficiency	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
351093011	Congenital transferrin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
622660011	Congenital transferrin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5713061000172117	déficit congénitale en transferrine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4877051000172110	congenitale transferrinedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4877061000172112	aangeboren tekort van transferrine	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)