268163008: Congenital ptosis (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 ptosis
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis
\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 ptosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis

\Eye / vision finding\Eyelid finding (finding)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis
\Eye / vision finding\Eyelid finding (finding)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis
\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 ptosis
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis

\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 ptosis
\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 ptosis
\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 ptosis
\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 ptosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital ptosis	Is a	Congenital anomaly of eyelid	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ptosis	Is a	Congenital disorders of eye and eyelid movements	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ptosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ptosis	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ptosis	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ptosis	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ptosis	Finding site	Upper eyelid structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ptosis	Finding site	Eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital ptosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital ptosis	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ptosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Congenital ptosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ptosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital ptosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ptosis	Associated morphology	Congenital prolapse	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ptosis	Is a	Eyelid malposition (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ptosis	Is a	Ptosis of eyelid	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ptosis	Associated morphology	Congenital prolapse	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ptosis	Finding site	Upper eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ptosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ptosis	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ptosis	Finding site	Eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ptosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital ptosis	Associated morphology	Congenital prolapse	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital ptosis	Finding site	Upper eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital ptosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ptosis	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ptosis	Associated morphology	Prolapse	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ptosis	Finding site	Upper eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ptosis	Associated morphology	Prolapse	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ptosis	Is a	Congenital malposition of eyelid (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ptosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital myogenic ptosis	Is a	False	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysgenetic ptosis (disorder)	Is a	True	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ptosis of upper eyelid	Is a	False	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myogenic ptosis	Is a	True	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Blepharoptosis, myopia, ectopia lentis syndrome	Is a	True	Congenital ptosis	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 ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.	Is a	True	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	Is a	True	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Ptosis, strabismus, ectopic pupil syndrome (disorder)	Is a	True	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculopharyngodistal myopathy (disorder)	Is a	False	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ptosis of left upper eyelid (disorder)	Is a	True	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ptosis of right upper eyelid (disorder)	Is a	True	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital Horner syndrome	Is a	False	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome	Is a	True	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	True	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Metopic ridging, ptosis, facial dysmorphism syndrome (disorder)	Is a	True	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder)	Is a	True	Congenital ptosis	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

US English

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Id	Description	Lang	Type	Status	Case?	Module
400783012	Congenital ptosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
660869017	Congenital ptosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2696023013	Congenital ptosis of upper eyelid	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
400783012	Congenital ptosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
400783012	Congenital ptosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
660869017	Congenital ptosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
660869017	Congenital ptosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2696023013	Congenital ptosis of upper eyelid	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2696023013	Congenital ptosis of upper eyelid	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
534111000274117	Kongenitale Ptosis des oberen Augenlids	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
622751000274118	Kongenitale Ptosis	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
431321000172114	ptose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
431321000172114	ptose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
534111000274117	Kongenitale Ptosis des oberen Augenlids	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
622751000274118	Kongenitale Ptosis	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447791001000112	Ptosis, kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module