733033001: Spinocerebellar ataxia dysmorphism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disease\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome

\Finding related to coordination / incoordination\Ataxia\...

\Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome

\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome

\Central nervous system finding\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Finding of spinal cord\Spinal cord disease\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome

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

\Finding of brain\Encephalopathy\...

\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome

\Cerebellar disorder\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome

\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disorder of head\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of head\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Spinocerebellar ataxia dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spinocerebellar ataxia dysmorphism syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498612013 Spinocerebellar ataxia dysmorphism syndrome en Synonym Active Case insensitive SNOMED CT core

3498613015 Spinocerebellar ataxia dysmorphism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3499939014 Syndrome that is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	3
Spinocerebellar ataxia dysmorphism syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Spinocerebellar ataxia dysmorphism syndrome	Is a	Dysgenesis of the cerebellum	true	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Spinocerebellar ataxia dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Spinocerebellar ataxia dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Spinocerebellar ataxia dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Spinocerebellar ataxia dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Spinocerebellar ataxia dysmorphism syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Spinocerebellar ataxia dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	4
Spinocerebellar ataxia dysmorphism syndrome	Finding site	Foot structure	true	Inferred relationship	Some	1
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Spinocerebellar ataxia dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Spinocerebellar ataxia dysmorphism syndrome	Is a	Congenital anomaly of spinal cord	true	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	3
Spinocerebellar ataxia dysmorphism syndrome	Finding site	Spinal cord structure	true	Inferred relationship	Some	4
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	3
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	4
Spinocerebellar ataxia dysmorphism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Is a	Hereditary cerebellar degeneration	false	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Is a	Spinocerebellar ataxia	true	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Is a	Congenital anomaly of foot	true	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Spinocerebellar ataxia dysmorphism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Spinocerebellar ataxia dysmorphism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	7
Spinocerebellar ataxia dysmorphism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Spinocerebellar ataxia dysmorphism syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	7
Spinocerebellar ataxia dysmorphism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	6
Spinocerebellar ataxia dysmorphism syndrome	Finding site	Spinal cord structure	false	Inferred relationship	Some	6
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	8
Spinocerebellar ataxia dysmorphism syndrome	Finding site	Face structure	false	Inferred relationship	Some	5
Spinocerebellar ataxia dysmorphism syndrome	Finding site	Foot structure	false	Inferred relationship	Some	8

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498612013	Spinocerebellar ataxia dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498613015	Spinocerebellar ataxia dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3499939014	Syndrome that is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core