1237418002: Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

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

\Finding of head circumference\Microcephaly\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

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

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

\Finding of head region\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disorder of head\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Disorder of head\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of serine metabolism\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5099072010 Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5099073017 ASCT1 deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

5099074011 Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5099075012 Spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Is a	Microcephaly	true	Inferred relationship	Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Is a	Congenital malformation of corpus callosum	true	Inferred relationship	Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Is a	Disorder of serine metabolism	true	Inferred relationship	Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	4
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Finding site	Corpus callosum structure	true	Inferred relationship	Existential restriction modifier	1
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

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
5099072010	Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5099073017	ASCT1 deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5099074011	Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5099075012	Spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module