1169356004: Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome

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

\Finding of head circumference\Microcephaly\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome

\Finding of brain\Disorder of brain\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome

\Disorder of head\Disorder of brain\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome

\Disease\Genetic disease\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
\Disease\Disorder of head\Disorder of brain\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4607745017 Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4607746016 Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Is a	Microcephaly	true	Inferred relationship	Existential restriction modifier
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Is a	Chronic brain syndrome	true	Inferred relationship	Existential restriction modifier
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Is a	Degenerative disease of the central nervous system	true	Inferred relationship	Existential restriction modifier
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	4
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	5
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	6
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	2
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	3
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	3
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	1
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	1
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	Is a	Hearing loss associated with syndrome	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
4607745017	Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4607746016	Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module