Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome 1169356004
SNOMED CT code
| SNOMED code | 1169356004 |
|---|---|
| name | Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) |
| synonyms | Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome |
| attributes - group4 | |
| Clinical course | Progressive 255314001 |
| attributes - group5 | |
| Finding site | Auditory structure 91159003 |
| attributes - group6 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Occurrence | Infancy 3658006 |
| Finding site | Brain structure 12738006 |
| Associated morphology | Atrophy 13331008 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome 1169356004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome 1169356004 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Hearing loss associated with syndrome 232333009 Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome 1169356004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Degenerative brain disorder 52522001 Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome 1169356004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome 1169356004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome 1169356004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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