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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) est un(e) (attribut) Congenital disease false Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) est un(e) (attribut) Narrowing of palpebral fissure false Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) est un(e) (attribut) Congenital anomaly of skin true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) est un(e) (attribut) Congenital ptosis of upper eyelid true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) est un(e) (attribut) malformation congénitale du visage true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) est un(e) (attribut) Deformity of eyelid (disorder) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) localisation d'une constatation (attribut) paupière supérieure (structure corporelle) true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) morphologie associée (attribut) Prolapse 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) survenue (attribut) congénital true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) localisation d'une constatation (attribut) Structure of palpebral fissure true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) morphologie associée (attribut) rétrécissement 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) survenue (attribut) congénital true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) localisation d'une constatation (attribut) Skin structure of epicanthus inversus (body structure) true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) morphologie associée (attribut) 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) est un(e) (attribut) Congenital deformity of soft tissue true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) est un(e) (attribut) Congenital blepharophimosis true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) est un(e) (attribut) Epicanthus inversus (finding) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) est un(e) (attribut) Dermatosis of eyelid (disorder) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) localisation d'une constatation (attribut) Skin structure of epicanthus inversus (body structure) false Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) morphologie associée (attribut) rétrécissement false Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) localisation d'une constatation (attribut) Structure of palpebral fissure false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) est un(e) (attribut) True Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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