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722201004: Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)

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
3331131011 Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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
3446651001000113 Pai-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6376651000241119 syndrome de Pai fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6376661000241116 syndrome de fente médiane de la lèvre supérieure, lipome du corps calleux et polypes cutanés fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6376651000241119 syndrome de Pai fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6376661000241116 syndrome de fente médiane de la lèvre supérieure, lipome du corps calleux et polypes cutanés fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3446651001000113 Pai-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pai syndrome Is a Cleft lip false Inferred relationship Existential restriction modifier (core metadata concept)
Pai syndrome Is a Frontonasal dysplasia sequence true Inferred relationship Existential restriction modifier (core metadata concept)
Pai syndrome Is a Benign neoplasm of brain, supratentorial false Inferred relationship Existential restriction modifier (core metadata concept)
Pai syndrome Is a Lipoma of head and/or neck false Inferred relationship Existential restriction modifier (core metadata concept)
Pai syndrome Is a Polyp (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pai syndrome Is a Lesion of skin and/or skin-associated mucous membrane (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pai syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pai syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pai syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pai syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Pai syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Pai syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 9
Pai syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 9
Pai syndrome Associated morphology Polyp (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pai syndrome Finding site Structure of skin and/or skin-associated mucous membrane false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pai syndrome Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pai syndrome Finding site Upper lip structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pai syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pai syndrome Finding site Structure of internal part of mouth false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pai syndrome Associated morphology Lipoma false Inferred relationship Existential restriction modifier (core metadata concept) 8
Pai syndrome Finding site Corpus callosum structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 8
Pai syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pai syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pai syndrome Finding site Upper lip structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pai syndrome Is a Central cleft lip true Inferred relationship Existential restriction modifier (core metadata concept)
Pai syndrome Is a Congenital malformation of corpus callosum false Inferred relationship Existential restriction modifier (core metadata concept)
Pai syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pai syndrome Associated morphology Lipoma true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pai syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pai syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pai syndrome Finding site Corpus callosum structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pai syndrome Finding site Bone structure of cranium true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pai syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pai syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pai syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pai syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Pai syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pai syndrome Finding site Structure of skin and/or skin-associated mucous membrane true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pai syndrome Associated morphology Polyp (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pai syndrome Finding site Upper lip structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pai syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pai syndrome Is a Lipoma of head false Inferred relationship Existential restriction modifier (core metadata concept)
Pai syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pai syndrome Is a Lipoma of brain true Inferred relationship Existential restriction modifier (core metadata concept)
Pai syndrome Is a Benign cerebral tumor (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pai syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pai syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pai syndrome Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pai syndrome Is a Leukoencephalopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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