190996002: Severe combined immunodeficiency with reticular dysgenesis (disorder)

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

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

\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)

\Anaemia\Congenital anemia\Severe combined immunodeficiency with reticular dysgenesis (disorder)

\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)

\Procedure related finding\Evaluation finding\...

\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\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (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\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\White blood cell number - finding\White cell count abnormal\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\White blood cell number - finding\White cell count abnormal\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\White blood cell number - finding\White cell count abnormal\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Severe combined immunodeficiency with reticular dysgenesis (disorder)

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Severe combined immunodeficiency with reticular dysgenesis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of cellular component of blood\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of cellular component of blood\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of body system\Disorder of immune structure\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)\Severe combined immunodeficiency with reticular dysgenesis (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3028945017 Severe combined immunodeficiency with reticular dysgenesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3028977019 Severe combined immunodeficiency with reticular dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293704019 Severe combined immunodefiency with reticular dysgenesis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

574644010 Severe combined immunodefiency with reticular dysgenesis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3028945017 Severe combined immunodeficiency with reticular dysgenesis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3028945017 Severe combined immunodeficiency with reticular dysgenesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3028977019 Severe combined immunodeficiency with reticular dysgenesis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3028977019 Severe combined immunodeficiency with reticular dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Severe combined immunodeficiency disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Severity	Severe	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Hereditary disorder of haematologic sysem	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Neutropenic disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Anaemia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Finding site	Leucocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Associated morphology	White blood cell abnormality (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Congenital anemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Disorder of immune structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Hereditary red blood cell disorder (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Congenital neutropenia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Has definitional manifestation	Neutropenia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Neutropenic disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Interprets	Neutrophil count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Red blood cell count below reference range	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	Hemoglobin below reference range (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3028945017	Severe combined immunodeficiency with reticular dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3028977019	Severe combined immunodeficiency with reticular dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
293704019	Severe combined immunodefiency with reticular dysgenesis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
574644010	Severe combined immunodefiency with reticular dysgenesis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3028945017	Severe combined immunodeficiency with reticular dysgenesis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3028945017	Severe combined immunodeficiency with reticular dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3028977019	Severe combined immunodeficiency with reticular dysgenesis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3028977019	Severe combined immunodeficiency with reticular dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core