36070007: Wiskott-Aldrich syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Wiskott-Aldrich syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Wiskott-Aldrich syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Wiskott-Aldrich syndrome
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Wiskott-Aldrich syndrome
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Wiskott-Aldrich syndrome

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

\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\Thrombocytopenia\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Platelet disorder\Thrombocytopenia\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 haemostatic system\Platelet disorder\...

\Thrombocytopenia\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Thrombocytopenia\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Thrombocytopenia\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 neoplastic 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\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Blood disease\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\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Wiskott-Aldrich syndrome
\Disease\Blood disease\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Wiskott-Aldrich syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Wiskott-Aldrich syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Wiskott-Aldrich syndrome
\Disease\Disorder of haemostatic 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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1228350017 Eczema, thrombocytopenia, immunodeficiency syndrome en Synonym Active Case insensitive SNOMED CT core
1228351018 WAS - Wiskott-Aldrich syndrome en Synonym Active Case sensitive SNOMED CT core
1228352013 Aldrich syndrome en Synonym Active Case sensitive SNOMED CT core
3036167017 Wiskott Aldrich syndrome en Synonym Active Initial character case insensitive SNOMED CT core
60191017 Wiskott-Aldrich syndrome en Synonym Active Case sensitive SNOMED CT core
60192012 Immunodeficiency with thrombocytopenia and eczema en Synonym Inactive Initial character case insensitive SNOMED CT core
60193019 Immunodeficiency with thrombocytopenia AND eczema en Synonym Active Initial character case insensitive SNOMED CT core
767779011 Wiskott-Aldrich syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

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

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

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
1228350017	Eczema, thrombocytopenia, immunodeficiency syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
1228351018	WAS - Wiskott-Aldrich syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
1228352013	Aldrich syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3036167017	Wiskott Aldrich syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
60191017	Wiskott-Aldrich syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
60192012	Immunodeficiency with thrombocytopenia and eczema	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
60193019	Immunodeficiency with thrombocytopenia AND eczema	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
767779011	Wiskott-Aldrich syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core