OMOP Concept 4244956
Congenital blepharophimosis
StandardConditionSNOMED93040009Disorder
Maps from
4
Descendants
13
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
4 source codes normalize to Congenital blepharophimosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 700277002 | Congenital blepharophimosis of lower eyelid | Non-standard |
| Nebraska Lexicon | 700297007 | Congenital blepharophimosis of upper eyelid | Non-standard |
| Nebraska Lexicon | 93040009 | Congenital blepharophimosis | Non-standard |
| Read | P361400 | Congenital blepharophimosis | Non-standard |
Synonyms
Alternative names recorded for Congenital blepharophimosis across source vocabularies.
- blefarofimosis congénita
- blefarofimosis congénita (trastorno)
- Congenital blepharophimosis (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(27)Roll up to these when you need a wider cohort.
- 1Congenital structural abnormality of eyelid
- 1Narrowing of palpebral fissure
- 2Congenital anomaly of face
- 2Congenital anomaly of ocular adnexa
- 2Disorder of eyelid
- 2Lesion of eyelid
- 2Palpebral fissure finding
- 3Congenital anomaly of head
- 3Congenital anomaly of visual system
- 3Disorder of face
- 3Disorder of ocular adnexa
- 3Eyelid finding
- 3Lesion of face
- 4Congenital malformation
- 4Disorder of eye region
- 4Disorder of head
- 4Eye / vision finding
- 4Finding of face
- 4Visual system disorder
- 5Clinical finding
- 5Congenital disease
- 5Developmental disorder
- 5Disease
- 5Disorder of body system
- 5Finding of head region
Narrower concepts
(13)Included automatically when you query with descendants.
- 1Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome
- 1Blepharophimosis epicanthus inversus ptosis syndrome
- 1Blepharophimosis, intellectual disability syndrome
- 1Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
- 1Congenital blepharophimosis of left palpebral fissure
- 1Congenital blepharophimosis of right palpebral fissure
- 1SMARCA2-related blepharophimosis, intellectual disability syndrome
- 2Bilateral congenital blepharophimosis of eyelids
- 2Blepharophimosis epicanthus inversus ptosis syndrome plus
- 2Blepharophimosis, intellectual disability syndrome, Verloes type
- 2Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
- 2Ohdo syndrome, Maat-Kievit-Brunner type
- 2Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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