Cholestasis with pigmentary retinopathy and cleft palate syndrome 720636001
SNOMED CT code
| SNOMED code | 720636001 |
|---|---|
| name | Cholestasis with pigmentary retinopathy and cleft palate syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) |
| synonyms |
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| attributes - group5 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Urinary system structure 122489005 |
| attributes - group2 | |
| Finding site | Retinal structure 5665001 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Pigment deposition 51083003 |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Developmental failure of fusion 371520008 |
| Finding site | Lip structure 48477009 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Liver structure 10200004 |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Palatal structure 72914001 |
| Associated morphology | Developmental failure of fusion 371520008 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Disorder of pigmentation 414032001 Retinal pigment deposits 247141006 Cholestasis with pigmentary retinopathy and cleft palate syndrome 720636001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of the genitourinary system 42030000 Disorder of the urinary system 128606002 Congenital malformation of the urinary system 253859003 Cholestasis with pigmentary retinopathy and cleft palate syndrome 720636001 SNOMED CT Concept 138875005 Clinical finding 404684003 Digestive system finding 386617003 Liver finding 249565005 Cholestasis 33688009 Cholestasis with pigmentary retinopathy and cleft palate syndrome 720636001 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Globe finding 246915008 Retina finding 399858007 Retinal disorder 29555009 Congenital anomaly of retina 49381001 Cholestasis with pigmentary retinopathy and cleft palate syndrome 720636001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Orofacial cleft 449790007 Cleft lip 80281008 Cleft palate with cleft lip 66948001 Cholestasis with pigmentary retinopathy and cleft palate syndrome 720636001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Cholestasis with pigmentary retinopathy and cleft palate syndrome 720636001 SNOMED CT Concept 138875005 Clinical finding 404684003 Digestive system finding 386617003 Liver finding 249565005 Disease of liver 235856003 Congenital anomaly of liver 89166001 Cholestasis with pigmentary retinopathy and cleft palate syndrome 720636001 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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