715342005: Alpha thalassemia X-linked intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\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\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome

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

\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome

\Anemia\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome
\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome

\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Alpha thalassemia X-linked intellectual disability syndrome
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Disease\Disorder of cellular component of blood\Anemia\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome
\Disease\Disorder of cellular component of blood\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Disease\Congenital disease\Hereditary hemoglobinopathy\Thalassemia\Alpha thalassemia\Alpha thalassemia X-linked intellectual disability syndrome
\Disease\Congenital disease\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3302289013 Alpha thalassemia X-linked intellectual disability syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3302290016 Alpha thalassemia X-linked intellectual disability syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3302291017 Alpha thalassaemia X-linked intellectual disability syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3302292012 Alpha thalassemia X-linked intellectual deficit en Synonym Active Only initial character case insensitive SNOMED CT core module

3302293019 Alpha thalassaemia X-linked intellectual deficit en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alpha thalassemia X-linked intellectual disability syndrome	Is a	Alpha thalassemia	true	Inferred relationship	Existential restriction modifier
Alpha thalassemia X-linked intellectual disability syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Alpha thalassemia X-linked intellectual disability syndrome	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier
Alpha thalassemia X-linked intellectual disability syndrome	Has definitional manifestation	Erythropenia	false	Inferred relationship	Existential restriction modifier
Alpha thalassemia X-linked intellectual disability syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Alpha thalassemia X-linked intellectual disability syndrome	Interprets	Measurement of total hemoglobin concentration	false	Inferred relationship	Existential restriction modifier	1
Alpha thalassemia X-linked intellectual disability syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Alpha thalassemia X-linked intellectual disability syndrome	Interprets	Red blood cell count	false	Inferred relationship	Existential restriction modifier	2
Alpha thalassemia X-linked intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Alpha thalassemia X-linked intellectual disability syndrome	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier	3
Alpha thalassemia X-linked intellectual disability syndrome	Interprets	Measurement of total hemoglobin concentration	true	Inferred relationship	Existential restriction modifier	2
Alpha thalassemia X-linked intellectual disability syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Alpha thalassemia X-linked intellectual disability syndrome	Is a	Congenital anemia	true	Inferred relationship	Existential restriction modifier
Alpha thalassemia X-linked intellectual disability syndrome	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier	1

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
3302289013	Alpha thalassemia X-linked intellectual disability syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3302290016	Alpha thalassemia X-linked intellectual disability syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3302291017	Alpha thalassaemia X-linked intellectual disability syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3302292012	Alpha thalassemia X-linked intellectual deficit	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3302293019	Alpha thalassaemia X-linked intellectual deficit	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module