Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1220597000
SNOMED CT code
| SNOMED code | 1220597000 |
|---|---|
| name | Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (disorder) |
| synonyms |
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| attributes - group4 | |
| Interprets | Body height 1153637007 |
| Has interpretation | Below reference range 281300000 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Finding site | Lens clear 78076003 |
| Associated morphology | Opacity 128305008 |
| attributes - group2 | |
| Finding site | Retinal structure 5665001 |
| Associated morphology | Dystrophy 4720007 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1220597000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Autosomal recessive retinitis pigmentosa 232053004 Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1220597000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1220597000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1220597000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Cataract 193570009 Infantile and/or juvenile cataract 342291000119102 Juvenile cataract 399336001 Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1220597000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1220597000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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