Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008
SNOMED CT code
| SNOMED code | 1197591008 |
|---|---|
| name | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
| status | active |
| date introduced | 2022-02-28 |
| fully specified name(s) | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) |
| synonyms | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Eye region structure 371398005 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Foot structure 56459004 |
| Associated morphology | Planovalgus 766253009 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Finding of limb structure 302293008 Finding of lower limb 116312005 Deformity of lower limb 449715001 Angulation deformity of lower limb 609381007 Congenital valgus deformity of foot 22099008 Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Severe mental retardation (I.Q. 20-34) 40700009 Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital strabismus 95509009 Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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