111571009: Congenital atransferrinemia (disorder)

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

\Evaluation finding\Microscopic specimen observation (finding)\Microcytosis\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\RBC count low\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\RBC count low\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\RBC count low\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\RBC count low\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Hematopoietic system finding\Microcytosis\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia

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

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 atransferrinemia	Is a	Anemia due to disturbance of hemoglobin synthesis	false	Inferred relationship	Some
Congenital atransferrinemia	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Congenital atransferrinemia	Finding site	Erythrocyte	false	Inferred relationship	Some
Congenital atransferrinemia	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital atransferrinemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Congenital atransferrinemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Congenital atransferrinemia	Has definitional manifestation	erytropeni	false	Inferred relationship	Some
Congenital atransferrinemia	Is a	Congenital anemia	false	Inferred relationship	Some
Congenital atransferrinemia	Is a	Congenital transferrin deficiency	true	Inferred relationship	Some
Congenital atransferrinemia	Has definitional manifestation	Microcytosis	false	Inferred relationship	Some
Congenital atransferrinemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital atransferrinemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Congenital atransferrinemia	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Congenital atransferrinemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Congenital atransferrinemia	Interprets	Red blood cell size determination	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
803141000052111	medfödd atransferrinemi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)