LAMA5-related multisystemic syndrome 1217370006
SNOMED CT code
| SNOMED code | 1217370006 |
|---|---|
| name | LAMA5-related multisystemic syndrome |
| status | active |
| date introduced | 2022-04-30 |
| fully specified name(s) | Laminin subunit alpha 5-related multisystemic syndrome (disorder) |
| synonyms |
|
| attributes - group3 | |
| Occurrence | Infancy 3658006 |
| Finding site | Skin structure 39937001 |
| attributes - group1 | |
| Finding site | Neuroepithelial layer 113324008 |
| Associated morphology | Degenerative abnormality 107669003 |
| attributes - group2 | |
| Finding site | Skeletal and/or smooth muscle structure 71616004 |
| Associated morphology | Degenerative abnormality 107669003 |
| 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 LAMA5-related multisystemic syndrome 1217370006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 LAMA5-related multisystemic syndrome 1217370006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Systemic disease 56019007 Systemic disease affecting skin 238980001 LAMA5-related multisystemic syndrome 1217370006 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Disorder of skin and/or subcutaneous tissue 80659006 Dermatosis of infancy 239091003 LAMA5-related multisystemic syndrome 1217370006 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Degenerative disorder of muscle 363058009 LAMA5-related multisystemic syndrome 1217370006 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 LAMA5-related multisystemic syndrome 1217370006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 LAMA5-related multisystemic syndrome 1217370006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Disorder of visual pathways 54767005 LAMA5-related multisystemic syndrome 1217370006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Degeneration of retina 95695004 LAMA5-related multisystemic syndrome 1217370006 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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