Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008
SNOMED CT code
| SNOMED code | 719205008 |
|---|---|
| name | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) |
| synonyms | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Dystrophy 4720007 |
| Finding site | Neuroepithelial layer 113324008 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Bone structure 272673000 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Dysplasia 25723000 |
| attributes - group3 | |
| Clinical course | Progressive 255314001 |
| parents |
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| 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 Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of musculoskeletal system 128237006 Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Hereditary retinal dystrophy 41799005 Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Disorder of visual pathways 54767005 Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Spondylometaphyseal dysplasia 784006008 Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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