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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 Reference Sets
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 GB English: Preferred (foundation metadata concept)
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 GB English: Acceptable (foundation metadata concept)
3331133014 Pai syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation 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 GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


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 (disorder) 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 neck 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 kongenit dysplasi 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 kongenit manglende sammenvoksning 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 dysgenese 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 kongenit dysplasi 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

GB English

US English

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