Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3321615010 | Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321616011 | Cholestasis with pigmentary retinopathy and cleft palate syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321617019 | Hardikar syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402444013 | A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402445014 | A rare multiple congenital malformation syndrome, characterised by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastro-oesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Urinary system structure (body structure) | false | Inferred relationship | Some | 9 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Is a | Cholestasis | true | Inferred relationship | Some | ||
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Is a | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Is a | Congenital anomaly of liver | true | Inferred relationship | Some | ||
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Is a | Retinal pigment deposits | true | Inferred relationship | Some | ||
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Is a | Congenital malformation of the urinary system | true | Inferred relationship | Some | ||
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 6 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Lip structure | false | Inferred relationship | Some | 6 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 7 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 8 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 9 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Deposition | false | Inferred relationship | Some | 10 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Retinal structure | false | Inferred relationship | Some | 10 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Liver structure | false | Inferred relationship | Some | 7 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 8 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Lip structure | false | Inferred relationship | Some | 1 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 2 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 2 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Deposition | false | Inferred relationship | Some | 2 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Lip structure | true | Inferred relationship | Some | 3 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Is a | Congenital anomaly of retina | true | Inferred relationship | Some | ||
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 4 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Urinary system structure (body structure) | true | Inferred relationship | Some | 5 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Liver structure | true | Inferred relationship | Some | 1 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Pigment deposition | true | Inferred relationship | Some | 2 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Finding site | Bone structure of head | false | Inferred relationship | Some | 6 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 6 | |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR