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890180006: Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4009632013 3q23 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4009633015 Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4009634014 Blepharophimosis epicanthus inversus ptosis syndrome plus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5244189016 BPES (blepharophimosis epicanthus inversus ptosis syndrome) plus en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4009630017 Blepharophimosis epicanthus inversus ptosis due to 3q23 microdeletion is a form of blepharophimosis epicanthus inversus ptosis syndrome (BPES), which in addition to the classical eyelids features of BPES, presents with genitourinary anomalies, spastic diplegia and speech delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
10056191000172116 syndrome de BPES (blépharophimosis ptosis épicanthus inversus plus) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
10056201000172118 syndrome de blépharophimosis ptosis épicanthus inversus plus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4888711000172115 syndroom van blefarofimose, epicanthus inversus en ptosis plus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4888721000172113 3q23-microdeletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Is a Blepharophimosis epicanthus inversus ptosis syndrome (disorder) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Finding site Structure of palpebral fissure true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Occurrence Congenital true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Associated morphology Narrowed structure (morphologic abnormality) true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Is a Deletion of part of long arm of chromosome 3 (disorder) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Is a Deformity of eyelid (disorder) false Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Is a Congenital anomaly of skin false Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Is a Congenital deformity of face (disorder) false Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Is a Congenital blepharophimosis false Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Finding site Chromosome pair 3 true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Occurrence Congenital true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Associated morphology Deformity true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Finding site Skin structure of epicanthus inversus (body structure) true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Occurrence Congenital true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Finding site Chromosome pair 3 false Inferred relationship Some 4
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Occurrence Congenital true Inferred relationship Some 4
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Associated morphology Deletion of long arm false Inferred relationship Some 4
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Finding site Long arm of chromosome true Inferred relationship Some 4
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 4
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Occurrence Congenital true Inferred relationship Some 5
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Finding site Upper eyelid structure true Inferred relationship Some 5
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Associated morphology Prolapse (morphologic abnormality) true Inferred relationship Some 5
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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