Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome 1172593006
SNOMED CT code
| SNOMED code | 1172593006 |
|---|---|
| name | Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder) |
| synonyms | Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Finding site | Cerebrum 83678007 |
| Associated morphology | Diffuse atrophy 125384005 |
| attributes - group2 | |
| Finding site | Optic nerve structure 18234004 |
| Associated morphology | Primary atrophy 68616007 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Eye / vision finding 118235002 Second cranial nerve finding 106152006 Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome 1172593006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome 1172593006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Inherited optic neuropathy 312942003 Hereditary optic atrophy 26360005 Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome 1172593006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Degenerative brain disorder 52522001 Cerebral degeneration 418143002 Cerebral atrophy 278849000 Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome 1172593006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome 1172593006 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Epilepsy 84757009 Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome 1172593006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome 1172593006 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
Thank you for choosing Find-A-Code, please Sign In to remove ads.
Quick, Current, Complete - www.findacode.com