111571009: Congenital atransferrinemia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Microscopic specimen observation\Microcytosis, red cells\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\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\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\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\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\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\Congenital atransferrinemia
\Evaluation finding\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\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\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\Cytopenia\Red blood cell count below reference range\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinemia
\Evaluation finding\Hematopoietic system finding\Microcytosis, red cells\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia

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

\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia

\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia

\Anemia due to disturbance of hemoglobin synthesis\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\Anemia\Microcytic anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Disease\Disorder of cellular component of blood\Anemia\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia
\Disease\Disorder of cellular component of blood\Anemia\Anemia due to disturbance of hemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinemia
\Disease\Congenital disease\Congenital anemia\Congenital transferrin deficiency\Congenital atransferrinemia

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

Descriptions:

Id Description Lang Type Status Case? Module

92712018 Congenital atransferinemia en Synonym Inactive Only initial character case insensitive SNOMED CT core module
92713011 Congenital atransferrinemia en Synonym Active Entire term case insensitive SNOMED CT core module
363844010 Congenital atransferinaemia en Synonym Inactive Only initial character case insensitive SNOMED CT core module
632790018 Congenital atransferinemia (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
3007008017 Congenital atransferrinaemia en Synonym Active Entire term case insensitive SNOMED CT core module
3007011016 Congenital atransferrinemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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	Existential restriction modifier
Congenital atransferrinemia	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Existential restriction modifier
Congenital atransferrinemia	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier
Congenital atransferrinemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Congenital atransferrinemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Congenital atransferrinemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Congenital atransferrinemia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Existential restriction modifier
Congenital atransferrinemia	Is a	Congenital anemia	false	Inferred relationship	Existential restriction modifier
Congenital atransferrinemia	Is a	Congenital transferrin deficiency	true	Inferred relationship	Existential restriction modifier
Congenital atransferrinemia	Has definitional manifestation	Microcytosis, red cells	false	Inferred relationship	Existential restriction modifier
Congenital atransferrinemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Congenital atransferrinemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Congenital atransferrinemia	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier	1
Congenital atransferrinemia	Interprets	Measurement of total hemoglobin concentration	true	Inferred relationship	Existential restriction modifier	2
Congenital atransferrinemia	Interprets	Red blood cell size determination	true	Inferred relationship	Existential restriction modifier	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
92712018	Congenital atransferinemia	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
92713011	Congenital atransferrinemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
363844010	Congenital atransferinaemia	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
632790018	Congenital atransferinemia (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive	SNOMED CT core module
3007008017	Congenital atransferrinaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3007011016	Congenital atransferrinemia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module