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 |
3321618012 | A syndrome of multiple congenital malformations with an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension) and obstructive renal disease (ectopic ureteric insertion, obstruction, hydronephrosis). Gastrointestinal tract and cardiac involvement 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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | structure de la rétine | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | Deposition | false | Inferred relationship | Some | 2 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | true | Inferred relationship | Some | 3 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of retina (disorder) | true | Inferred relationship | Some | ||
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | true | Inferred relationship | Some | 4 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | Urinary system structure | true | Inferred relationship | Some | 5 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | foie | true | Inferred relationship | Some | 1 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | Structure showing abnormal deposition of pigment (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse de la tête (structure corporelle) | 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) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | Urinary system structure | false | Inferred relationship | Some | 9 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | est un(e) (attribut) | cholestase (constatation) | true | Inferred relationship | Some | ||
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | est un(e) (attribut) | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of liver | true | Inferred relationship | Some | ||
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | est un(e) (attribut) | dépôts pigmentaires rétiniens | true | Inferred relationship | Some | ||
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | est un(e) (attribut) | Congenital malformation of the urinary system | true | Inferred relationship | Some | ||
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 6 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | false | Inferred relationship | Some | 6 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 7 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 10 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 8 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 9 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | Deposition | false | Inferred relationship | Some | 10 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | structure de la rétine | false | Inferred relationship | Some | 10 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | foie | false | Inferred relationship | Some | 7 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | false | Inferred relationship | Some | 8 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | false | Inferred relationship | Some | 1 | |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | false | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets