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1208480004: Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4964762014 Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964763016 Epibulbar lipodermoid, preauricular appendage, polythelia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399826010 Epibulbar lipodermoid - preauricular appendages - polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399827018 Epibulbar lipodermoid - preauricular appendages - polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterised by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a Congenital anomaly of eye true Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a Accessory tragus true Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a Developmental malformation of branchial arch (disorder) true Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a Accessory nipple true Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a Choristoma of eye proper (disorder) true Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Finding site Eye structure true Inferred relationship Some 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Associated morphology Dermolipoma (morphologic abnormality) true Inferred relationship Some 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Finding site Branchial arch structure true Inferred relationship Some 2
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Finding site Nipple structure true Inferred relationship Some 3
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Associated morphology Supernumerary structure true Inferred relationship Some 3
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Finding site Tragus structure true Inferred relationship Some 4
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Associated morphology Supernumerary structure true Inferred relationship Some 4
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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