Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007
SNOMED CT code
| SNOMED code | 770755007 |
|---|---|
| name | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Dysplasia 25723000 |
| Finding site | Bone structure 272673000 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Brain structure 12738006 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| 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 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Disorder of skeletal system 88230002 Skeletal dysplasia 105986008 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of glycoprotein metabolism 238045003 Carbohydrate-deficient glycoprotein syndrome 238049009 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Metabolic bone disease 50279003 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 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 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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