190996002: Severe combined immunodeficiency with reticular dysgenesis (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\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\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal\Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Severe combined immunodeficiency with reticular dysgenesis
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Severe combined immunodeficiency with reticular dysgenesis

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

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

\Anaemia\Congenital anaemia\Severe combined immunodeficiency with reticular dysgenesis

\White blood cell disorder\Hereditary white blood cell disorder\Severe combined immunodeficiency with reticular dysgenesis
\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
\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\SCID due to absent peripheral T cell maturation\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\SCID due to absent peripheral T cell maturation\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\SCID due to absent peripheral T cell maturation\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Disorder of immune function\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
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\SCID due to absent peripheral T cell maturation\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Disorder of immune function\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
\Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Blood disease\Anaemia\Congenital anaemia\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Blood disease\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
\Disease\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Disorder of body system\Disorder of immune structure\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\SCID due to absent peripheral T cell maturation\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Congenital disease\Congenital anaemia\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Severe combined immunodeficiency with reticular dysgenesis
\Disease\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\SCID due to absent peripheral T cell maturation\Severe combined immunodeficiency with reticular dysgenesis

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3028977019 Severe combined immunodeficiency with reticular dysgenesis en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe combined immunodeficiency with reticular dysgenesis	Pathological process	Abnormal immune process	false	Inferred relationship	Some	5
Severe combined immunodeficiency with reticular dysgenesis	Finding site	Structure of immune system	true	Inferred relationship	Some	4
Severe combined immunodeficiency with reticular dysgenesis	Occurrence	Congenital	true	Inferred relationship	Some	5
Severe combined immunodeficiency with reticular dysgenesis	Pathological process	Abnormal immune process	true	Inferred relationship	Some	6
Severe combined immunodeficiency with reticular dysgenesis	Is a	Hereditary disorder of haematologic system	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	Neutropenic disorder	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	SCID due to absent peripheral T cell maturation	true	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	Anaemia	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Finding site	Erythrocyte	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Finding site	Leucocyte	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Associated morphology	White blood cell abnormality	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	Congenital anaemia	true	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	Disorder of immune structure	true	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	Hereditary red blood cell disorder	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	Hereditary white blood cell disorder	true	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	Congenital neutropenia	true	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Has definitional manifestation	Neutrophil count below reference range	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	Severe combined immunodeficiency disease	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	Neutropenic disorder	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Severe combined immunodeficiency with reticular dysgenesis	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Severe combined immunodeficiency with reticular dysgenesis	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Severe combined immunodeficiency with reticular dysgenesis	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Severe combined immunodeficiency with reticular dysgenesis	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Severe combined immunodeficiency with reticular dysgenesis	Interprets	Neutrophil count	true	Inferred relationship	Some	3
Severe combined immunodeficiency with reticular dysgenesis	Is a	RBC count low	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	Haemoglobin low	false	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Occurrence	Congenital	false	Inferred relationship	Some	6
Severe combined immunodeficiency with reticular dysgenesis	Finding site	Structure of immune system	false	Inferred relationship	Some	4
Severe combined immunodeficiency with reticular dysgenesis	Severity	Severe	false	Inferred relationship	Some

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
3028945017	Severe combined immunodeficiency with reticular dysgenesis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3028977019	Severe combined immunodeficiency with reticular dysgenesis	en	Synonym	Active	Case insensitive	SNOMED CT core