111571009: Congenital atransferrinemia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Microscopic specimen observation\Microcytosis\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinaemia
\Evaluation finding\Haematopoietic system finding\Microcytosis\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia

\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\...

\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia

\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia

\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinaemia

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital transferrin deficiency\Congenital atransferrinaemia
\Disease\Blood disease\Anaemia\Microcytic anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Disease\Blood disease\Anaemia\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia
\Disease\Blood disease\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency\Congenital atransferrinaemia
\Disease\Congenital disease\Congenital anaemia\Congenital transferrin deficiency\Congenital atransferrinaemia

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3007008017 Congenital atransferrinaemia en Synonym Active Case insensitive SNOMED CT core
3007011016 Congenital atransferrinemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
363844010 Congenital atransferinaemia en Synonym Inactive Initial character case insensitive SNOMED CT core
632790018 Congenital atransferinemia (disorder) en Fully specified name Inactive Initial character case insensitive SNOMED CT core
92712018 Congenital atransferinemia en Synonym Inactive Initial character case insensitive SNOMED CT core
92713011 Congenital atransferrinemia en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital atransferrinaemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital atransferrinaemia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Congenital atransferrinaemia	Is a	Congenital anaemia	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	Is a	Congenital transferrin deficiency	true	Inferred relationship	Some
Congenital atransferrinaemia	Has definitional manifestation	Microcytosis	false	Inferred relationship	Some
Congenital atransferrinaemia	Is a	Anaemia due to disturbance of haemoglobin synthesis	false	Inferred relationship	Some
Congenital atransferrinaemia	Is a	Congenital anomaly of the haematopoietic system	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	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3007008017	Congenital atransferrinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3007011016	Congenital atransferrinemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
363844010	Congenital atransferinaemia	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
632790018	Congenital atransferinemia (disorder)	en	Fully specified name	Inactive	Initial character case insensitive	SNOMED CT core
92712018	Congenital atransferinemia	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
92713011	Congenital atransferrinemia	en	Synonym	Active	Case insensitive	SNOMED CT core