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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Anemia\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \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 (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \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 (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Disease\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha thalassemia X-linked intellectual disability syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital anemia\Alpha thalassemia X-linked intellectual disability syndrome (disorder)

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

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 (core metadata concept)	SNOMED CT core
3302290016	Alpha thalassemia X-linked intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302291017	Alpha thalassaemia X-linked intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302292012	Alpha thalassemia X-linked intellectual deficit	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302293019	Alpha thalassaemia X-linked intellectual deficit	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302294013	In males the syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. This syndrome is X-linked recessive and results from mutations in the ATRX gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302295014	In males the syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. Female carriers are usually physically and intellectually normal. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behavior. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. This syndrome is X-linked recessive and results from mutations in the ATRX gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11300691000172111	thalassémie alpha-déficience intellectuelle liée à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11300701000172111	thalassémie alpha liée à l'X avec retard mental	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11300711000172114	syndrome d'alpha-thalassémie liée à l'X avec déficit intellectuel	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4735191000172111	ATR-X-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4735201000172114	syndroom van alfathalassemie en X-gebonden verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4735211000172112	alfathalassemie-X-gebonden intellectuele achterstand-syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4735221000172119	syndroom van alfathalassemie en X-gebonden mentale retardatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4735231000172116	syndroom van alfathalassemie en X-gebonden verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4735241000172111	syndroom van alfathalassemie en X-gebonden intellectuele achterstand	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

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