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\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\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\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\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\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\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\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\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\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi

\Eye / vision finding\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\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\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi

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
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Is a	Congenital structural abnormality of eyelid	true	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Occurrence	Congenital	false	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Finding site	Structure of palpebral fissure (body structure)	false	Inferred relationship	Some	2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	Decreased size	false	Inferred relationship	Some	1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Is a	Congenital anomaly of face	false	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	Narrowed structure (morphologic abnormality)	false	Inferred relationship	Some	2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Finding site	Structure of orbit proper	false	Inferred relationship	Some	3
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Finding site	Eyelid structure	false	Inferred relationship	Some	1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Is a	Congenital anomaly of face (disorder)	false	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Finding site	Face structure	false	Inferred relationship	Some	3
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Is a	Palpebral fissure finding (finding)	false	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Is a	Narrowing of palpebral fissure	true	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Finding site	Eyelid structure	false	Inferred relationship	Some	1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Finding site	Structure of palpebral fissure (body structure)	false	Inferred relationship	Some	2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	Narrowed structure (morphologic abnormality)	false	Inferred relationship	Some	2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Occurrence	Congenital	false	Inferred relationship	Some	3
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Finding site	Eyelid structure	false	Inferred relationship	Some	3
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Occurrence	Congenital	true	Inferred relationship	Some	1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	Narrowed structure (morphologic abnormality)	true	Inferred relationship	Some	1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Finding site	Structure of palpebral fissure (body structure)	true	Inferred relationship	Some	1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Is a	Congenital disease	false	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Is a	Disorder of eyelid	false	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Is a	Congenital deformity of face (disorder)	false	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Occurrence	Congenital	false	Inferred relationship	Some	2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Is a	Deformity of eyelid (disorder)	false	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	Deformity	false	Inferred relationship	Some	2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Finding site	Eyelid structure	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Blepharophimosis syndrome	Is a	False	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Is a	False	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
Congenital blepharophimosis of lower eyelid	Is a	False	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
Congenital blepharophimosis of upper eyelid	Is a	False	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).	Is a	True	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
A rare syndrome characterized 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	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.	Is a	True	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.	Is a	False	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	True	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
Congenital blepharophimosis of bilateral eyelids (disorder)	Is a	False	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
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.	Is a	False	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
Congenital blepharophimosis of left palpebral fissure (disorder)	Is a	True	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
Congenital blepharophimosis of right palpebral fissure (disorder)	Is a	True	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some
A rare genetic syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears.	Is a	True	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
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	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
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