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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
5408880013 A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5408881012 A rare disorder of the ocular adnexa characterised by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5408880013 A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5408881012 A rare disorder of the ocular adnexa characterised by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
590831000274119 BPES plus - Blepharophimose-Epicanthus inversus-Ptosis-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418591001000114 Blepharophimose-Epicanthus inversus-Ptosis-Syndrom plus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5807591000241119 syndrome de BPES (blépharophimosis ptosis épicanthus inversus plus) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5807601000241114 syndrome de blépharophimosis ptosis épicanthus inversus plus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5807591000241119 syndrome de BPES (blépharophimosis ptosis épicanthus inversus plus) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5807601000241114 syndrome de blépharophimosis ptosis épicanthus inversus plus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
590831000274119 BPES plus - Blepharophimose-Epicanthus inversus-Ptosis-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418591001000114 Blepharophimose-Epicanthus inversus-Ptosis-Syndrom plus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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

Reference Sets

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

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