Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001
SNOMED CT code
| SNOMED code | 1208746001 |
|---|---|
| name | Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
| status | active |
| date introduced | 2022-03-31 |
| fully specified name(s) | Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome (disorder) |
| synonyms | Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
| attributes - group2 | |
| Finding site | Skeletal muscle structure 127954009 |
| attributes - group3 | |
| Finding site | Bone structure 272673000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Interprets | Body height measure 50373000 |
| Has interpretation | Below reference range 281300000 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| parents |
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| 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 Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001 SNOMED CT Concept 138875005 Clinical finding 404684003 Age AND/OR growth finding 105726004 Bone age finding 397651006 Delayed bone age 123983008 Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Finding of power of skeletal muscle 271708004 Muscle weakness 26544005 Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001 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, muscle weakness, short stature, facial dysmorphism syndrome 1208746001 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Bone finding 118953000 Disorder of bone 76069003 Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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