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

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

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 (core metadata concept) SNOMED CT core
4607746016 Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399306019 A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399307011 A rare, genetic neurological disorder characterised by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4607745017 Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4607746016 Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4607747013 A rare genetic neurological disorder with characteristics of early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. Additional reported manifestations include seizures, optic atrophy, cortical visual impairment, scoliosis, and dysphagia. Brain imaging shows pontine hypoplasia, partial agenesis of the corpus callosum, and diffuse cerebral atrophy with relative sparing of the cerebellum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399306019 A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399307011 A rare, genetic neurological disorder characterised by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447691001000115 Früh-beginnende progressive Enzephalopathie-Hörverlust-Ponshypoplasie-Hirnatrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6107501000241117 syndrome d'encéphalopathie progressive à début précoce, surdité, hypoplasie du pont et atrophie cérébrale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6107501000241117 syndrome d'encéphalopathie progressive à début précoce, surdité, hypoplasie du pont et atrophie cérébrale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447691001000115 Früh-beginnende progressive Enzephalopathie-Hörverlust-Ponshypoplasie-Hirnatrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a Microcephaly (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a Global developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a Degenerative disease of the central nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 4
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 2
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 3
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a Degenerative brain disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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