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36070007: Wiskott-Aldrich syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hereditary disorder of cellular element of blood\Inherited platelet disorder\...

\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome

\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome

\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Wiskott-Aldrich syndrome
\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome

\Functional finding\Disorder of hemostatic system\Platelet disorder\...

\Thrombocytopenic disorder\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Thrombocytopenic disorder\Immune thrombocytopenia\Wiskott-Aldrich syndrome

\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome

\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Wiskott-Aldrich syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Wiskott-Aldrich syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Wiskott-Aldrich syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency with major anomalies\Immunodeficiency associated with multiple organ system abnormalities\Wiskott-Aldrich syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Wiskott-Aldrich syndrome
\Disease\Disorder of immune function\Immune thrombocytopenia\Wiskott-Aldrich syndrome
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Wiskott-Aldrich syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Wiskott-Aldrich syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Disease\Disorder of body system\Disorder of immune structure\Immunodeficiency with major anomalies\Immunodeficiency associated with multiple organ system abnormalities\Wiskott-Aldrich syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Wiskott-Aldrich syndrome
\Disease\Congenital disease\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Disease\Congenital disease\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Wiskott-Aldrich syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

60191017 Wiskott-Aldrich syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

60193019 Immunodeficiency with thrombocytopenia AND eczema en Synonym Active Only initial character case insensitive SNOMED CT core module

767779011 Wiskott-Aldrich syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

1228350017 Eczema, thrombocytopenia, immunodeficiency syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

1228351018 WAS - Wiskott-Aldrich syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

1228352013 Aldrich syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3036167017 Wiskott Aldrich syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Wiskott-Aldrich syndrome	Is a	Congenital anomaly of integument	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	Dense body defect	true	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	Immunodeficiency associated with multiple organ system abnormalities	true	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	Eczema	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	Thrombocytopenia	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Associated morphology	Papulovesicular rash	false	Inferred relationship	Existential restriction modifier	1
Wiskott-Aldrich syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Wiskott-Aldrich syndrome	Finding site	Structure of immune system	true	Inferred relationship	Existential restriction modifier	5
Wiskott-Aldrich syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Wiskott-Aldrich syndrome	Finding site	Platelet	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	Congenital thrombocytopenia	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Associated morphology	Inflammation	false	Inferred relationship	Existential restriction modifier	1
Wiskott-Aldrich syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Wiskott-Aldrich syndrome	Has definitional manifestation	Platelet count below reference range	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Wiskott-Aldrich syndrome	Associated morphology	Inflammation	false	Inferred relationship	Existential restriction modifier	1
Wiskott-Aldrich syndrome	Is a	Hereditary thrombocytopenic disorder	true	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	Hereditary disorder of cellular element of blood	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Has definitional manifestation	Platelet count below reference range	false	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Wiskott-Aldrich syndrome	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier	1
Wiskott-Aldrich syndrome	Is a	Congenital thrombocytopenia	true	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	4
Wiskott-Aldrich syndrome	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier	3
Wiskott-Aldrich syndrome	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier	3
Wiskott-Aldrich syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Wiskott-Aldrich syndrome	Is a	Immune thrombocytopenia	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Wiskott-Aldrich autosomal dominant variant syndrome	Is a	True	Wiskott-Aldrich syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
60191017	Wiskott-Aldrich syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
60193019	Immunodeficiency with thrombocytopenia AND eczema	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
767779011	Wiskott-Aldrich syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
1228350017	Eczema, thrombocytopenia, immunodeficiency syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1228351018	WAS - Wiskott-Aldrich syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1228352013	Aldrich syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3036167017	Wiskott Aldrich syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module