234353009: Congenital transferrin deficiency (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 anemia\Congenital transferrin deficiency (disorder)

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

\Procedure related finding\Evaluation finding\...

\Microscopic specimen observation (finding)\Microcytosis\Microcytic anemia\Congenital transferrin deficiency (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)
\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)
\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)
\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)
\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)
\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)
\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)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency (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)
\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)
\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)
\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)
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency (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)
\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)
\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)

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency (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)
\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)
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Microcytic anemia\Congenital transferrin deficiency (disorder)
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital transferrin deficiency (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)
\Haematopoietic system finding\Microcytosis\Microcytic anemia\Congenital transferrin deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital transferrin deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Congenital transferrin deficiency (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Microcytic anemia\Congenital transferrin deficiency (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Congenital transferrin deficiency (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Congenital transferrin deficiency (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 transferrin deficiency (disorder)	Is a	Microcytic anemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Has definitional manifestation	Microcytosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital transferrin deficiency (disorder)	Is a	Congenital anemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Is a	Anaemia due to disturbance of haemoglobin synthesis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Is a	Hereditary red blood cell disorder (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital transferrin deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital transferrin deficiency (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital transferrin deficiency (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital transferrin deficiency (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
Congenital atransferrinemia (disorder)	Is a	True	Congenital transferrin deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
351093011	Congenital transferrin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
622660011	Congenital transferrin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
351093011	Congenital transferrin deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
351093011	Congenital transferrin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
622660011	Congenital transferrin deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
622660011	Congenital transferrin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4995161000241113	déficit congénitale en transferrine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4995161000241113	déficit congénitale en transferrine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module