Ichthyosis, short stature, brachydactyly, microspherophakia syndrome 783551005
SNOMED CT code
| SNOMED code | 783551005 |
|---|---|
| name | Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |
| status | active |
| date introduced | 2019-07-31 |
| fully specified name(s) | Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder) |
| synonyms |
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| attributes - group5 | |
| Interprets | Keratinization 44138005 |
| Has interpretation | Abnormal 263654008 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Hyperkeratosis 26996000 |
| Finding site | Entire skin 181469002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Lens clear 78076003 |
| Associated morphology | Congenital smallness 41086002 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Digit structure 82680008 |
| Associated morphology | Abnormally short growth 11182007 |
| attributes - group3 | |
| Finding site | Lens clear 78076003 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Congenital abnormal roundness 38022006 |
| attributes - group6 | |
| Interprets | Height / growth measure 271603002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Ichthyosis, short stature, brachydactyly, microspherophakia syndrome 783551005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Ichthyosis, short stature, brachydactyly, microspherophakia syndrome 783551005 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Skin finding 106076001 Rough skin 816995008 Congenital ichthyosis of skin 13059002 Autosomal recessive ichthyosis 402772005 Ichthyosis, short stature, brachydactyly, microspherophakia syndrome 783551005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with limb defect as major feature 41443008 Ichthyosis, short stature, brachydactyly, microspherophakia syndrome 783551005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of sensory organ 1279550006 Disorder of eye 371405004 Disorder of anterior segment of eye 128535002 Disorder of lens 10810001 Congenital anomaly of lens 128353007 Microphakia 35272001 Microspherophakia 416671000 Ichthyosis, short stature, brachydactyly, microspherophakia syndrome 783551005 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Deformity of limb 445144002 Longitudinal deficiency of part of limb 716638009 Brachydactyly 43476002 Ichthyosis, short stature, brachydactyly, microspherophakia syndrome 783551005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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