93040009: Congenital blepharophimosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis
\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis
\Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis

\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis

\Eye / vision finding\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis

\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head\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\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\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Developmental disorder\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. Date: 31-Jul 2005. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

153899017 Congenital blepharophimosis en Synonym Active Entire term case insensitive SNOMED CT core module

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital blepharophimosis	Is a	Congenital anomaly of eyelid	true	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Congenital blepharophimosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis	Finding site	Structure of palpebral fissure	false	Inferred relationship	Existential restriction modifier	2
Congenital blepharophimosis	Associated morphology	Decreased size	false	Inferred relationship	Existential restriction modifier	1
Congenital blepharophimosis	Is a	Congenital anomaly of face	false	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis	Associated morphology	Narrowed structure	false	Inferred relationship	Existential restriction modifier	2
Congenital blepharophimosis	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier	3
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Existential restriction modifier	1
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Congenital blepharophimosis	Is a	Congenital anomaly of face	false	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	3
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Congenital blepharophimosis	Is a	Palpebral fissure finding	false	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis	Is a	Narrowing of palpebral fissure	true	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Existential restriction modifier	1
Congenital blepharophimosis	Finding site	Structure of palpebral fissure	false	Inferred relationship	Existential restriction modifier	2
Congenital blepharophimosis	Associated morphology	Narrowed structure	false	Inferred relationship	Existential restriction modifier	2
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Congenital blepharophimosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Congenital blepharophimosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Existential restriction modifier	3
Congenital blepharophimosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital blepharophimosis	Associated morphology	Narrowed structure	true	Inferred relationship	Existential restriction modifier	1
Congenital blepharophimosis	Finding site	Structure of palpebral fissure	true	Inferred relationship	Existential restriction modifier	1
Congenital blepharophimosis	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis	Is a	Disorder of eyelid	false	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis	Is a	Congenital deformity of face	false	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Congenital blepharophimosis	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Congenital blepharophimosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Congenital blepharophimosis	Is a	Deformity of eyelid	false	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis	Associated morphology	Deformity	false	Inferred relationship	Existential restriction modifier	2
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Blepharophimosis syndrome	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis of lower eyelid	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis of upper eyelid	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier
Blepharophimosis, intellectual disability syndrome, Verloes type	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier
Blepharophimosis, intellectual disability syndrome	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier
Congenital blepharophimosis of bilateral eyelids	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier
Blepharophimosis epicanthus inversus ptosis syndrome plus	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
153899017	Congenital blepharophimosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
836690013	Congenital blepharophimosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module