782737003: Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Refractory epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly 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\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly 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\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Refractory epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Finding of brain\Disorder of brain\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome

\Finding of head region\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disorder of head\Disorder of brain\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Refractory epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly 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\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly 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\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of head\Disorder of brain\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3755544016 Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3755545015 Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Cerebellar disorder	false	Inferred relationship	Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Refractory epilepsy	true	Inferred relationship	Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Finding site	Cerebellar vermis structure	true	Inferred relationship	Existential restriction modifier	2
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Cerebral atrophy	true	Inferred relationship	Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Disorder of cerebral cortex	true	Inferred relationship	Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Associated morphology	Diffuse atrophy	true	Inferred relationship	Existential restriction modifier	2
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Associated morphology	Diffuse atrophy	true	Inferred relationship	Existential restriction modifier	1
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Finding site	Structure of cerebral cortex	true	Inferred relationship	Existential restriction modifier	1
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	3
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	3
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Hereditary cerebellar degeneration	true	Inferred relationship	Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	3
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	4
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3755544016	Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3755545015	Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module