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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3331132016 Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome en Synonym Active Case insensitive SNOMED CT core
3331133014 Pai syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pai syndrome Is a Congenital anomaly of corpus callosum false Inferred relationship Some
Pai syndrome Occurrence Congenital true Inferred relationship Some 4
Pai syndrome Associated morphology Lipoma true Inferred relationship Some 1
Pai syndrome Pathological process Pathological developmental process false Inferred relationship Some 1
Pai syndrome Occurrence Congenital true Inferred relationship Some 3
Pai syndrome Finding site Corpus callosum structure true Inferred relationship Some 1
Pai syndrome Finding site Bone structure of cranium true Inferred relationship Some 3
Pai syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Pai syndrome Occurrence Congenital true Inferred relationship Some 2
Pai syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Pai syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 3
Pai syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Pai syndrome Finding site Structure of skin and/or skin-associated mucous membrane true Inferred relationship Some 4
Pai syndrome Associated morphology Polyp true Inferred relationship Some 4
Pai syndrome Finding site Upper lip structure true Inferred relationship Some 2
Pai syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 2
Pai syndrome Is a Lipoma of head false Inferred relationship Some
Pai syndrome Associated morphology Dysplasia true Inferred relationship Some 3
Pai syndrome Is a Lipoma of brain true Inferred relationship Some
Pai syndrome Is a Benign cerebral tumour true Inferred relationship Some
Pai syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 5
Pai syndrome Pathological process Pathological developmental process false Inferred relationship Some 5
Pai syndrome Finding site Bone structure of head false Inferred relationship Some 5
Pai syndrome Is a Leukoencephalopathy true Inferred relationship Some
Pai syndrome Is a Cleft lip false Inferred relationship Some
Pai syndrome Is a Frontonasal dysplasia sequence true Inferred relationship Some
Pai syndrome Is a Benign neoplasm of brain, supratentorial false Inferred relationship Some
Pai syndrome Is a Lipoma of head and neck false Inferred relationship Some
Pai syndrome Is a Polyp true Inferred relationship Some
Pai syndrome Is a Lesion of skin and/or skin-associated mucous membrane true Inferred relationship Some
Pai syndrome Occurrence Congenital false Inferred relationship Some 5
Pai syndrome Occurrence Congenital false Inferred relationship Some 6
Pai syndrome Occurrence Congenital false Inferred relationship Some 7
Pai syndrome Occurrence Congenital false Inferred relationship Some 8
Pai syndrome Occurrence Congenital false Inferred relationship Some 9
Pai syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 9
Pai syndrome Finding site Bone structure of cranium false Inferred relationship Some 9
Pai syndrome Associated morphology Polyp false Inferred relationship Some 5
Pai syndrome Finding site Structure of skin and/or skin-associated mucous membrane false Inferred relationship Some 5
Pai syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 7
Pai syndrome Finding site Upper lip structure false Inferred relationship Some 7
Pai syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
Pai syndrome Finding site Structure of internal part of mouth false Inferred relationship Some 6
Pai syndrome Associated morphology Lipoma false Inferred relationship Some 8
Pai syndrome Finding site Corpus callosum structure false Inferred relationship Some 8
Pai syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 1
Pai syndrome Occurrence Congenital true Inferred relationship Some 1
Pai syndrome Finding site Upper lip structure false Inferred relationship Some 1
Pai syndrome Is a Central cleft lip true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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