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715391004: Blepharophimosis epicanthus inversus ptosis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302366019 Blepharophimosis epicanthus inversus ptosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302434013 Blepharophimosis epicanthus inversus ptosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4165357012 BPES - blepharophimosis epicanthus inversus ptosis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302435014 An ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302436010 An ophthalmic disorder characterised by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Is a Congenital blepharophimosis true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Is a Epicanthus inversus (finding) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Is a Dermatosis of eyelid (disorder) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Finding site Skin structure of epicanthus inversus (body structure) false Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Finding site Structure of palpebral fissure false Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Is a Congenital disease (disorder) false Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Is a Narrowing of palpebral fissure (disorder) false Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Is a Congenital anomaly of skin true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Is a Congenital ptosis (disorder) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Is a Congenital deformity of face (disorder) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Is a Deformity of eyelid (disorder) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Finding site Upper eyelid structure true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Associated morphology Prolapse (morphologic abnormality) true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Finding site Structure of palpebral fissure true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Associated morphology Narrowed structure (morphologic abnormality) true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Finding site Skin structure of epicanthus inversus (body structure) true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Associated morphology Deformity true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Is a Congenital deformity of soft tissue true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Is a True Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Inferred relationship Some

This concept is not in any reference sets

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