403837005: Wiskott-Aldrich autosomal dominant variant syndrome (disorder)

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

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)

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

\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)
\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)

\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)
\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Wiskott-Aldrich syndrome\Wiskott-Aldrich autosomal dominant variant syndrome (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1771763014 Wiskott-Aldrich autosomal dominant variant syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1782841017 Wiskott-Aldrich autosomal dominant variant syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3684221000052110 Wiskott-Aldrichs syndrom, autosomalt dominant variant sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Is a	Wiskott-Aldrich syndrome	true	Inferred relationship	Some
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Finding site	Platelet	false	Inferred relationship	Some
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Associated morphology	inflammation	false	Inferred relationship	Some	1
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Associated morphology	Papulovesicular rash	false	Inferred relationship	Some	1
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	3
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Has definitional manifestation	Platelet count below reference range (finding)	false	Inferred relationship	Some
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Associated morphology	inflammation	false	Inferred relationship	Some	1
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Has definitional manifestation	Platelet count below reference range (finding)	false	Inferred relationship	Some
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Interprets	Platelet count	true	Inferred relationship	Some	1
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	4
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Interprets	Hemostatic function	false	Inferred relationship	Some	2
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Some	2
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	5

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
1771763014	Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1782841017	Wiskott-Aldrich autosomal dominant variant syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3684221000052110	Wiskott-Aldrichs syndrom, autosomalt dominant variant	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)