Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
SNOMED CT code
| SNOMED code | 764959000 |
|---|---|
| name | Intellectual disability, myopathy, short stature, endocrine defect syndrome |
| status | active |
| date introduced | 2018-07-31 |
| fully specified name(s) | Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Gonadal endocrine structure 304041004 |
| attributes - group3 | |
| Finding site | Structure of distal part of pituitary 52618001 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Interprets | Height / growth measure 271603002 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| 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 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Hereditary disorder of endocrine system 363104002 Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Hereditary disorder by system 363137000 Reproductive system hereditary disorder 363290007 Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hypogonadotropic hypogonadism 722944006 Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000 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, myopathy, short stature, endocrine defect syndrome 764959000 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Congenital anomaly of skeletal muscle 89886004 Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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