111571009: Congenital atransferrinemia (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 atransferrinaemia

\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinaemia

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

\Procedure related finding\Evaluation finding\...

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

\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\Congenital atransferrinaemia
\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\Congenital atransferrinaemia
\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\Congenital atransferrinaemia
\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\Congenital atransferrinaemia
\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\Congenital atransferrinaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia (finding)\Red blood cell count below reference range\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia (finding)\Red blood cell count below reference range\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\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\Congenital atransferrinaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia (finding)\Red blood cell count below reference range\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia (finding)\Red blood cell count below reference range\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\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\Congenital atransferrinaemia
\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\Congenital atransferrinaemia
\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\Congenital atransferrinaemia

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\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\Congenital atransferrinaemia
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\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\Congenital atransferrinaemia
\Hematopoietic system finding\Microcytosis\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinaemia

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

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 atransferrinaemia	Is a	Anemia due to disturbance of hemoglobin synthesis	false	Inferred relationship	Some
Congenital atransferrinaemia	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Congenital atransferrinaemia	Finding site	Erythrocyte	false	Inferred relationship	Some
Congenital atransferrinaemia	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital atransferrinaemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital atransferrinaemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital atransferrinaemia	Has definitional manifestation	Erytrocytopeni	false	Inferred relationship	Some
Congenital atransferrinaemia	Is a	Congenital anemia	false	Inferred relationship	Some
Congenital atransferrinaemia	Is a	Congenital transferrin deficiency	true	Inferred relationship	Some
Congenital atransferrinaemia	Has definitional manifestation	Microcytosis	false	Inferred relationship	Some
Congenital atransferrinaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital atransferrinaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Congenital atransferrinaemia	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Congenital atransferrinaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Congenital atransferrinaemia	Interprets	Red blood cell size determination (procedure)	true	Inferred relationship	Some	4

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
92713011	Congenital atransferrinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3007008017	Congenital atransferrinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3007011016	Congenital atransferrinemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1822941000005119	Kongenit atransferinemi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)