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 |
| 6686911000146114 | syndroom van Pai | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6686931000146119 | Pai-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7194721000146110 | syndroom van mediane hazenlip, lipoom van corpus callosum en huidpoliep | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8411151000146114 | syndroom van mediane cheiloschisis, pericallosaal lipoom en cutane poliep | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10671581000146118 | Pai-syndroom (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | Is a | Cleft lip | false | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | Frontonasal dysplasia sequence | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | Benign neoplasm of brain, supratentorial | false | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | Lipoma of head and/or neck (disorder) | false | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | Polyp (disorder) | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | 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) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 9 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Finding site | Bone structure of cranium | false | Inferred relationship | Some | 9 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Associated morphology | Polyp | false | Inferred relationship | Some | 5 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Finding site | 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) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 7 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Finding site | Upper lip structure | false | Inferred relationship | Some | 7 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 6 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Finding site | Structure of internal part of mouth | false | Inferred relationship | Some | 6 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Associated morphology | Lipoma morphology (morphologic abnormality) | false | Inferred relationship | Some | 8 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Finding site | Corpus callosum structure | false | Inferred relationship | Some | 8 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Finding site | Upper lip structure | false | Inferred relationship | Some | 1 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | Central cleft lip | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | Congenital malformation of corpus callosum | false | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Associated morphology | Lipoma morphology (morphologic abnormality) | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Finding site | Corpus callosum structure | true | Inferred relationship | Some | 1 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Finding site | Bone structure of cranium | 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) | Occurrence | Congenital | 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) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | 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) | Finding site | 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) | Associated morphology | Polyp | true | Inferred relationship | Some | 4 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Finding site | Upper lip structure | true | Inferred relationship | Some | 2 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | Lipoma of head | false | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | Lipoma of brain (disorder) | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | Benign cerebral tumour | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Associated morphology | 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) | Finding site | Bone structure of head | false | Inferred relationship | Some | 5 | |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | Is a | Congenital neurological disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR