93040009: Congenital blepharophimosis (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis
\Finding of head region\Finding of face\Lesion of face (finding)\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis
\Finding of head region\Finding of face\constatation à propos d'une paupière\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\Congenital blepharophimosis
\Finding of head region\Finding of face\constatation à propos d'une paupière\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis
\Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis

\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis

\constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\Congenital blepharophimosis
\constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis
\constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis

\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

153899017 Congenital blepharophimosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

836690013 Congenital blepharophimosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2884893017 A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital blepharophimosis	est un(e) (attribut)	malformation congénitale du visage	false	Inferred relationship	Some
Congenital blepharophimosis	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Congenital blepharophimosis	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Congenital blepharophimosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital blepharophimosis	est un(e) (attribut)	Deformity of eyelid (disorder)	false	Inferred relationship	Some
Congenital blepharophimosis	morphologie associée (attribut)	Deformity	false	Inferred relationship	Some	2
Congenital blepharophimosis	localisation d'une constatation (attribut)	paupière (structure corporelle)	false	Inferred relationship	Some	2
Congenital blepharophimosis	est un(e) (attribut)	Congenital anomaly of face	false	Inferred relationship	Some
Congenital blepharophimosis	morphologie associée (attribut)	rétrécissement	false	Inferred relationship	Some	2
Congenital blepharophimosis	localisation d'une constatation (attribut)	Structure of orbit proper	false	Inferred relationship	Some	3
Congenital blepharophimosis	localisation d'une constatation (attribut)	paupière (structure corporelle)	false	Inferred relationship	Some	1
Congenital blepharophimosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	3
Congenital blepharophimosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Congenital blepharophimosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	3
Congenital blepharophimosis	est un(e) (attribut)	Congenital anomaly of face (disorder)	false	Inferred relationship	Some
Congenital blepharophimosis	localisation d'une constatation (attribut)	face	false	Inferred relationship	Some	3
Congenital blepharophimosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Congenital blepharophimosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	3
Congenital blepharophimosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Congenital blepharophimosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	3
Congenital blepharophimosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Congenital blepharophimosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	3
Congenital blepharophimosis	est un(e) (attribut)	Palpebral fissure finding (finding)	false	Inferred relationship	Some
Congenital blepharophimosis	est un(e) (attribut)	Narrowing of palpebral fissure	true	Inferred relationship	Some
Congenital blepharophimosis	est un(e) (attribut)	Congenital anomaly of eyelid	true	Inferred relationship	Some
Congenital blepharophimosis	localisation d'une constatation (attribut)	paupière (structure corporelle)	false	Inferred relationship	Some	1
Congenital blepharophimosis	localisation d'une constatation (attribut)	Structure of palpebral fissure	false	Inferred relationship	Some	2
Congenital blepharophimosis	morphologie associée (attribut)	rétrécissement	false	Inferred relationship	Some	2
Congenital blepharophimosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Congenital blepharophimosis	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Congenital blepharophimosis	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Congenital blepharophimosis	localisation d'une constatation (attribut)	paupière (structure corporelle)	false	Inferred relationship	Some	3
Congenital blepharophimosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Congenital blepharophimosis	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital blepharophimosis	morphologie associée (attribut)	rétrécissement	true	Inferred relationship	Some	1
Congenital blepharophimosis	localisation d'une constatation (attribut)	Structure of palpebral fissure	true	Inferred relationship	Some	1
Congenital blepharophimosis	est un(e) (attribut)	Congenital disease	false	Inferred relationship	Some
Congenital blepharophimosis	est un(e) (attribut)	affection des paupières	false	Inferred relationship	Some
Congenital blepharophimosis	survenue (attribut)	congénital	false	Inferred relationship	Some
Congenital blepharophimosis	localisation d'une constatation (attribut)	Structure of palpebral fissure	false	Inferred relationship	Some	2
Congenital blepharophimosis	morphologie associée (attribut)	Decreased size	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	est un(e) (attribut)	False	Congenital blepharophimosis	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Congenital blepharophimosis	Inferred relationship	Some
Congenital blepharophimosis of bilateral eyelids (disorder)	est un(e) (attribut)	True	Congenital blepharophimosis	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder)	est un(e) (attribut)	False	Congenital blepharophimosis	Inferred relationship	Some
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	est un(e) (attribut)	False	Congenital blepharophimosis	Inferred relationship	Some
Blepharophimosis syndrome	est un(e) (attribut)	False	Congenital blepharophimosis	Inferred relationship	Some
Congenital blepharophimosis of lower eyelid (disorder)	est un(e) (attribut)	False	Congenital blepharophimosis	Inferred relationship	Some
Congenital blepharophimosis of upper eyelid	est un(e) (attribut)	False	Congenital blepharophimosis	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder)	est un(e) (attribut)	True	Congenital blepharophimosis	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)	est un(e) (attribut)	True	Congenital blepharophimosis	Inferred relationship	Some
syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale	est un(e) (attribut)	True	Congenital blepharophimosis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
153899017	Congenital blepharophimosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
836690013	Congenital blepharophimosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2884893017	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core