93040009: Congenital blepharophimosis (disorder)

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

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

\Eye / vision finding\Eyelid finding (finding)\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Eye / vision finding\Eyelid finding (finding)\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Eye / vision finding\Eyelid finding (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 (disorder)\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 (disorder)\Narrowing of palpebral fissure (disorder)\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 (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\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 (disorder)\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 (disorder)\Narrowing of palpebral fissure (disorder)\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 (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\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:

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 (core metadata concept)
Congenital blepharophimosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital blepharophimosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis	Finding site	Structure of palpebral fissure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital blepharophimosis	Associated morphology	diminution de la dimension	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital blepharophimosis	Is a	Congenital anomaly of face	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis	Associated morphology	Narrowed structure (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital blepharophimosis	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital blepharophimosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital blepharophimosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital blepharophimosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital blepharophimosis	Is a	Congenital anomaly of face (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis	Finding site	Face structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital blepharophimosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital blepharophimosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital blepharophimosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital blepharophimosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital blepharophimosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital blepharophimosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital blepharophimosis	Is a	Palpebral fissure finding (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis	Is a	Narrowing of palpebral fissure (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital blepharophimosis	Finding site	Structure of palpebral fissure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital blepharophimosis	Associated morphology	Narrowed structure (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital blepharophimosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital blepharophimosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital blepharophimosis	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital blepharophimosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital blepharophimosis	Associated morphology	Narrowed structure (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital blepharophimosis	Finding site	Structure of palpebral fissure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital blepharophimosis	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis	Is a	Disorder of eyelid	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis	Is a	Congenital deformity of face (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital blepharophimosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital blepharophimosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital blepharophimosis	Is a	Deformity of eyelid (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis	Associated morphology	Deformity (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital blepharophimosis	Finding site	Eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Blepharophimosis syndrome	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis of lower eyelid	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis of upper eyelid	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis of bilateral eyelids (disorder)	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder)	Is a	False	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis of left palpebral fissure (disorder)	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blepharophimosis of right palpebral fissure	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder)	Is a	True	Congenital blepharophimosis	Inferred relationship	Existential restriction modifier (core metadata concept)

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
153899017	Congenital blepharophimosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
625541000274115	Kongenitale Blepharophimose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4706391000241115	blépharophimosis congénital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4706391000241115	blépharophimosis congénital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
625541000274115	Kongenitale Blepharophimose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module