68504005: Ataxia-telangiectasia syndrome (disorder)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome

\Head finding (finding)\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Ataxia-telangiectasia syndrome

\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Telangiectasia disorder\Ataxia-telangiectasia syndrome

\Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Ataxia-telangiectasia syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome

\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Ataxia-telangiectasia syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Telangiectasia disorder\Ataxia-telangiectasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Ataxia-telangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Ataxia-telangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Ataxia-telangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Ataxia-telangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ataxia-telangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ataxia-telangiectasia syndrome
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Ataxia-telangiectasia syndrome
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Ataxia-telangiectasia syndrome
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Ataxia-telangiectasia syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\Disease\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Ataxia-telangiectasia syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Ataxia-telangiectasia syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ataxia-telangiectasia syndrome	Is a	Spinocerebellar disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Telangiectasia disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Congenital anomaly of integument	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Immunodeficiency associated with chromosomal abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Associated morphology	Telangiectasis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia-telangiectasia syndrome	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia-telangiectasia syndrome	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ataxia-telangiectasia syndrome	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia-telangiectasia syndrome	Finding site	Peripheral vascular system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ataxia-telangiectasia syndrome	Associated morphology	Telangiectasis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ataxia-telangiectasia syndrome	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ataxia-telangiectasia syndrome	Is a	Congenital anomaly of skin (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Finding site	Microscopic skin vascular structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ataxia-telangiectasia syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Associated morphology	Telangiectasis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ataxia-telangiectasia syndrome	Finding site	Cerebellar structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Ataxia-telangiectasia syndrome	Associated morphology	Telangiectasis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ataxia-telangiectasia syndrome	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia-telangiectasia syndrome	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ataxia-telangiectasia syndrome	Associated morphology	Telangiectasis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ataxia-telangiectasia syndrome	Associated morphology	Telangiectasis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia-telangiectasia syndrome	Associated with	Chromosomal disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ataxia-telangiectasia syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Finding site	Spinal cord structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ataxia-telangiectasia syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Hereditary disorder of the integument (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Associated morphology	Telangiectasis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ataxia-telangiectasia syndrome	Finding site	Microscopic skin vascular structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ataxia-telangiectasia syndrome	Is a	Peripheral vascular disease associated with another disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia-telangiectasia syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia-telangiectasia syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia-telangiectasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia-telangiectasia syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Ataxia-telangiectasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Is a	Central nervous system complication	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome	Finding site	Blood vessel structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chorea due to ataxia telangiectasia syndrome (disorder)	Due to	True	Ataxia-telangiectasia syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dystonia due to ataxia telangiectasia syndrome	Due to	True	Ataxia-telangiectasia syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)	3

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
113782012	Ataxia-telangiectasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
113783019	Louis-Bar syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
808347012	Ataxia-telangiectasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233052011	Ataxia telangiectasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2966626011	Ataxia telangiectasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
113782012	Ataxia-telangiectasia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
113782012	Ataxia-telangiectasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
113783019	Louis-Bar syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
808347012	Ataxia-telangiectasia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
808347012	Ataxia-telangiectasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233052011	Ataxia telangiectasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233052011	Ataxia telangiectasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2966626011	Ataxia telangiectasia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2966626011	Ataxia telangiectasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3410831001000110	Ataxia-Teleangiectasia	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
198531000172119	syndrome d'ataxie-télangiectasie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
594411000172111	ataxie-télangiectasie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
198531000172119	syndrome d'ataxie-télangiectasie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
594411000172111	ataxie-télangiectasie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410831001000110	Ataxia-Teleangiectasia	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module