VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005
SNOMED CT code
| SNOMED code | 1187249005 |
|---|---|
| name | VPS11-related autosomal recessive hypomyelinating leukodystrophy |
| status | active |
| date introduced | 2021-11-30 |
| fully specified name(s) | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
| synonyms |
|
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Finding site | Myelinated nerve fiber structure 54115001 |
| Associated morphology | Myelin sheath alteration 125495003 |
| attributes - group2 | |
| Finding site | White matter structure of brain and spinal cord 389080008 |
| Associated morphology | Dystrophy 4720007 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Leukodystrophy 192781003 VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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