111571009: Congenital atransferrinemia (disorder)

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

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

\Microcytic anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)

\Congenital anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)

\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)

\Procedure related finding\Evaluation finding\...

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

\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\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 (disorder)\Congenital atransferrinemia (disorder)
\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 (disorder)\Congenital atransferrinemia (disorder)
\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 (disorder)\Congenital atransferrinemia (disorder)
\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 (disorder)\Congenital atransferrinemia (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\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 (disorder)\Congenital atransferrinemia (disorder)
\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 (disorder)\Congenital atransferrinemia (disorder)
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Microcytic anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)
\Haematopoietic system finding\Microcytosis\Microcytic anemia\Congenital transferrin deficiency (disorder)\Congenital atransferrinemia (disorder)

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

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 (disorder)	Is a	Anaemia due to disturbance of haemoglobin synthesis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atransferrinemia (disorder)	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atransferrinemia (disorder)	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atransferrinemia (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital atransferrinemia (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atransferrinemia (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atransferrinemia (disorder)	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atransferrinemia (disorder)	Is a	Congenital anemia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atransferrinemia (disorder)	Is a	Congenital transferrin deficiency (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atransferrinemia (disorder)	Has definitional manifestation	Microcytosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atransferrinemia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital atransferrinemia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital atransferrinemia (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital atransferrinemia (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital atransferrinemia (disorder)	Interprets	Red blood cell size determination	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
92712018	Congenital atransferinemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
92713011	Congenital atransferrinemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
92713011	Congenital atransferrinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
363844010	Congenital atransferinaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
632790018	Congenital atransferinemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3007008017	Congenital atransferrinaemia	en	Synonym (core metadata concept)	Active	Only initial character 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	Only initial character 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
3410531001000112	Atransferrinämie, kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
912781000172111	hypotransferrinémie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1020391000172110	atransferrinémie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
912781000172111	hypotransferrinémie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1020391000172110	atransferrinémie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410531001000112	Atransferrinämie, kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module