FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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
4165358019 BPES plus - 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) est un(e) (attribut) Blepharophimosis epicanthus inversus ptosis syndrome (disorder) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) localisation d'une constatation (attribut) Structure of palpebral fissure true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) morphologie associée (attribut) rétrécissement true Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) est un(e) (attribut) Deletion of part of long arm of chromosome 3 (disorder) true Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) est un(e) (attribut) Deformity of eyelid (disorder) false Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) est un(e) (attribut) Congenital anomaly of skin false Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) est un(e) (attribut) malformation congénitale du visage false Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) est un(e) (attribut) 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) localisation d'une constatation (attribut) Chromosome pair 3 (cell structure) 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) morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) morphologie associée (attribut) Deformity true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) localisation d'une constatation (attribut) Skin structure of epicanthus inversus (body structure) true Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) survenue (attribut) congénital 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) localisation d'une constatation (attribut) Chromosome pair 3 (cell structure) false Inferred relationship Some 4
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) survenue (attribut) congénital 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) morphologie associée (attribut) Deletion of long arm false Inferred relationship Some 4
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) localisation d'une constatation (attribut) Long arm of chromosome (cell structure) true Inferred relationship Some 4
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 4
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) localisation d'une constatation (attribut) paupière supérieure (structure corporelle) true Inferred relationship Some 5
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) morphologie associée (attribut) Prolapse 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

Back to Start