93040009: Congenital blepharophimosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis

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

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality 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	Is a	Congenital structural abnormality of eyelid	true	Inferred relationship	Some
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital blepharophimosis	Occurrence	Congenital	false	Inferred relationship	Some
Congenital blepharophimosis	Finding site	Structure of palpebral fissure	false	Inferred relationship	Some	2
Congenital blepharophimosis	Associated morphology	Decreased size	false	Inferred relationship	Some	1
Congenital blepharophimosis	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Congenital blepharophimosis	Associated morphology	Narrowed structure (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital blepharophimosis	Finding site	Structure of orbit proper	false	Inferred relationship	Some	3
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Some	1
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Congenital blepharophimosis	Is a	Congenital anomaly of face (disorder)	false	Inferred relationship	Some
Congenital blepharophimosis	Finding site	Face structure	false	Inferred relationship	Some	3
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Congenital blepharophimosis	Is a	Palpebral fissure finding (finding)	false	Inferred relationship	Some
Congenital blepharophimosis	Is a	Narrowing of palpebral fissure (disorder)	true	Inferred relationship	Some
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Some	1
Congenital blepharophimosis	Finding site	Structure of palpebral fissure	false	Inferred relationship	Some	2
Congenital blepharophimosis	Associated morphology	Narrowed structure (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital blepharophimosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital blepharophimosis	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital blepharophimosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Some	3
Congenital blepharophimosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital blepharophimosis	Associated morphology	Narrowed structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital blepharophimosis	Finding site	Structure of palpebral fissure	true	Inferred relationship	Some	1
Congenital blepharophimosis	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Congenital blepharophimosis	Is a	Disorder of eyelid	false	Inferred relationship	Some
Congenital blepharophimosis	Is a	Congenital deformity of face (disorder)	false	Inferred relationship	Some
Congenital blepharophimosis	Occurrence	Congenital	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	Is a	Deformity of eyelid (disorder)	false	Inferred relationship	Some
Congenital blepharophimosis	Associated morphology	Deformity	false	Inferred relationship	Some	2
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Blepharophimosis syndrome	Is a	False	Congenital blepharophimosis	Inferred relationship	Some
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	Is a	False	Congenital blepharophimosis	Inferred relationship	Some
Congenital blepharophimosis of lower eyelid	Is a	False	Congenital blepharophimosis	Inferred relationship	Some
Congenital blepharophimosis of upper eyelid	Is a	False	Congenital blepharophimosis	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder)	Is a	True	Congenital blepharophimosis	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)	Is a	True	Congenital blepharophimosis	Inferred relationship	Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Is a	True	Congenital blepharophimosis	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	Is a	False	Congenital blepharophimosis	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	True	Congenital blepharophimosis	Inferred relationship	Some
Congenital blepharophimosis of bilateral eyelids (disorder)	Is a	False	Congenital blepharophimosis	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder)	Is a	False	Congenital blepharophimosis	Inferred relationship	Some
Congenital blepharophimosis of left palpebral fissure (disorder)	Is a	True	Congenital blepharophimosis	Inferred relationship	Some
Congenital blepharophimosis of right palpebral fissure (disorder)	Is a	True	Congenital blepharophimosis	Inferred relationship	Some
SMARCA2-related blepharophimosis, intellectual disability syndrome	Is a	True	Congenital blepharophimosis	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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