X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006
SNOMED CT code
| SNOMED code | 1172692006 |
|---|---|
| name | X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome (disorder) |
| synonyms | X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome |
| attributes - group5 | |
| Finding site | Optic nerve structure 18234004 |
| attributes - group4 | |
| Interprets | Range of joint movement 364564000 |
| Has interpretation | Decreased 1250004 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Structure of distal interphalangeal joint 725412007 |
| Associated morphology | Contracture 57048009 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Finding site | Skin structure 39937001 |
| Associated morphology | Scar 12402003 |
| attributes - group3 | |
| Finding site | Skin structure 39937001 |
| Associated morphology | Keloid 58405006 |
| attributes - group6 | |
| Interprets | Optic cup/disc ratio 247225001 |
| Has interpretation | Increased 35105006 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Joint deformity 250087009 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Joint finding 118952005 Arthropathy 399269003 Lesion of joint 298149009 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 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 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Scar 275322007 Scar of skin 70582006 Keloid scar 33659008 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Contracture scar 447246008 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Deformity of limb 445144002 Longitudinal deficiency of part of limb 716638009 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Contracture of joint 7890003 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Disorder of digit 128597007 Congenital anomaly of digit 403855001 Congenital abnormal shape of digit 92907008 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Joint finding 118952005 Arthropathy 399269003 Congenital anomaly of joint 95463009 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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