Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007
SNOMED CT code
| SNOMED code | 723676007 |
|---|---|
| name | Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) |
| synonyms | Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Anal structure 53505006 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Entire distal phalanx 299711006 |
| Associated morphology | Hypoplasia 55199003 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Finding site | Brain structure 12738006 |
| 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 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007 SNOMED CT Concept 138875005 Clinical finding 404684003 Digestive system finding 386617003 Gastrointestinal tract finding 386618008 Anal finding 249628000 Disorder of anus 32110003 Congenital anomaly of anus 11194003 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007 SNOMED CT Concept 138875005 Clinical finding 404684003 Digestive system finding 386617003 Disorder of digestive system 53619000 Digestive system hereditary disorder 363080007 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007 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 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Disorder of digit 128597007 Congenital anomaly of digit 403855001 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with limb defect as major feature 41443008 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Epilepsy 84757009 Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007 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, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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