68504005: Ataxia-telangiectasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel\Telangiectasia disorder\Ataxia-telangiectasia syndrome

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

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\...

\Encephalomyelopathy\Spinocerebellar disease\Ataxia-telangiectasia syndrome

\Cerebellar disorder\Spinocerebellar disease\Ataxia-telangiectasia syndrome

\Disorder of head\Disorder of brain\...

\Encephalomyelopathy\Spinocerebellar disease\Ataxia-telangiectasia syndrome

\Cerebellar 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\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel\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\Hereditary disorder of nervous system\Ataxia-telangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Ataxia-telangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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\Hereditary disorder of immune system\Ataxia-telangiectasia syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Ataxia-telangiectasia syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Central nervous system complication\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Spinal cord disorder\Encephalomyelopathy\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\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\Disease\Disorder of head\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Disease\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\Congenital disease\Congenital immunodeficiency disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Ataxia-telangiectasia syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\Disease\Disorder of soft tissue\Disorder of blood vessel\Telangiectasia disorder\Ataxia-telangiectasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ataxia-telangiectasia syndrome
\Disease\Developmental 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

113782012 Ataxia-telangiectasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
113783019 Louis-Bar syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
808347012 Ataxia-telangiectasia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1233052011 Ataxia telangiectasia en Synonym Active Entire term case insensitive SNOMED CT core module
2966626011 Ataxia telangiectasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

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

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

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
113782012	Ataxia-telangiectasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
113783019	Louis-Bar syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
808347012	Ataxia-telangiectasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1233052011	Ataxia telangiectasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2966626011	Ataxia telangiectasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module