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 |
| 3331131011 | Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331132016 | Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331133014 | Pai syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331134015 | An idiopathic developmental disorder with characteristics of median cleft of the upper lip, midline polyps of the facial skin and nasal mucosa and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Presents at birth with a variable phenotype ranging from mild facial dysmorphism to more severe anomalies resembling frontonasal dysplasia. Normal neuropsychological development was reported in all but one case that presented with epileptic seizures. Sacral dimples may be observed at birth, and hypospadias has been reported in some male patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | Congenital malformation of corpus callosum | false | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | morphologie d'un lipome (anomalie morphologique) | true | Inferred relationship | Some | 1 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | localisation d'une constatation (attribut) | Corpus callosum structure | true | Inferred relationship | Some | 1 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | localisation d'une constatation (attribut) | crâne (structure corporelle) | true | Inferred relationship | Some | 3 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | localisation d'une constatation (attribut) | Structure of skin and/or skin-associated mucous membrane | true | Inferred relationship | Some | 4 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | polype | true | Inferred relationship | Some | 4 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | localisation d'une constatation (attribut) | Upper lip structure | true | Inferred relationship | Some | 2 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | Lipoma of head | false | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 3 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | Lipoma of brain (disorder) | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | Benign cerebral tumour | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse de la tête (structure corporelle) | false | Inferred relationship | Some | 5 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | leuco-encéphalopathie | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | Cleft lip | false | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | Frontonasal dysplasia sequence | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | Benign neoplasm of brain, supratentorial | false | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | Lipoma of head and neck | false | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | Polyp (disorder) | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | Lesion of skin and/or skin-associated mucous membrane | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 9 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | localisation d'une constatation (attribut) | crâne (structure corporelle) | false | Inferred relationship | Some | 9 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | polype | false | Inferred relationship | Some | 5 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | localisation d'une constatation (attribut) | Structure of skin and/or skin-associated mucous membrane | false | Inferred relationship | Some | 5 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 7 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | localisation d'une constatation (attribut) | Upper lip structure | false | Inferred relationship | Some | 7 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | localisation d'une constatation (attribut) | Structure of internal part of mouth | false | Inferred relationship | Some | 6 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | morphologie d'un lipome (anomalie morphologique) | false | Inferred relationship | Some | 8 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | localisation d'une constatation (attribut) | Corpus callosum structure | false | Inferred relationship | Some | 8 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | localisation d'une constatation (attribut) | Upper lip structure | false | Inferred relationship | Some | 1 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | est un(e) (attribut) | Central cleft lip | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR