Choroideremia with deafness and obesity syndrome 717761005
SNOMED CT code
| SNOMED code | 717761005 |
|---|---|
| name | Choroideremia with deafness and obesity syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Choroideremia with deafness and obesity syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Associated morphology | Degenerative abnormality 107669003 |
| Finding site | Choroidal structure 68703001 |
| attributes - group3 | |
| Has interpretation | Above reference range 281302008 |
| Interprets | Body weight measure 363808001 |
| attributes - group6 | |
| Finding site | Sex chromosome X 72837006 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Partial monosomy 371169004 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group5 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Impaired 260379002 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Long arm of chromosome 312242007 |
| Associated morphology | Partial monosomy 371169004 |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Ear structure 117590005 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of sex chromosome 95462004 Anomaly of chromosome X 111312006 Choroideremia with deafness and obesity syndrome 717761005 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 X-linked sensorineural hearing loss 232329002 Choroideremia with deafness and obesity syndrome 717761005 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 Choroideremia with deafness and obesity syndrome 717761005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Choroideremia with deafness and obesity syndrome 717761005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Obesity 414916001 Choroideremia with deafness and obesity syndrome 717761005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Congenital sensorineural hearing loss 700453005 Congenital mixed conductive and sensorineural hearing loss 737377004 Choroideremia with deafness and obesity syndrome 717761005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Hereditary choroidal dystrophy 74469006 Choroideremia 75241009 Choroideremia with deafness and obesity syndrome 717761005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Choroideremia with deafness and obesity syndrome 717761005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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