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 |
5402845019 | A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402846018 | A rare frontonasal dysplasia characterised by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. | 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 | Congenital dysplasia | 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 | Developmental anomaly | 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 | 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) | 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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)