Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005
SNOMED CT code
| SNOMED code | 724001005 |
|---|---|
| name | Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) |
| synonyms |
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| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Finding site | Auditory structure 91159003 |
| attributes - group5 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Finding site | Gonadal endocrine structure 304041004 |
| attributes - group4 | |
| Associated morphology | Dystrophy 4720007 |
| Finding site | Retinal structure 5665001 |
| 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 Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Autosomal recessive retinitis pigmentosa 232053004 Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Hearing loss associated with syndrome 232333009 Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005 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 Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Hereditary disorder by system 363137000 Reproductive system hereditary disorder 363290007 Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Disorder of endocrine gonad 127345001 Hypogonadism 48130008 Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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