OMOP Concept 36713543
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
StandardConditionSNOMED717914000Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome across source vocabularies.
- Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
- Frydman Cohen Karmon syndrome
- síndrome de blefarofimosis, ptosis, esotropía, sindactilia, baja estatura
- síndrome de blefarofimosis, ptosis, esotropía, sindactilia, baja estatura (trastorno)
- síndrome de Frydman Cohen Karmon
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(75)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital blepharophimosis
- 1Congenital ptosis of upper eyelid
- 1Congenital strabismus
- 1Developmental hereditary disorder
- 1Esotropia
- 1Hereditary disorder of the visual system
- 1Multiple malformation syndrome with facial-limb defects as major feature
- 1Short stature disorder
- 1Syndactyly of toes
- 2Autosomal hereditary disorder
- 2Congenital anomaly of head
- 2Congenital anomaly of limb
- 2Congenital anomaly of toe
- 2Congenital anomaly of visual system
- 2Congenital structural abnormality of eyelid
- 2Developmental disorder
- 2Disorder of eye region
- 2Disorder of stature
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Heterotropia
- 2Lesion of toe
- 2Multiple malformation syndrome with facial defects as major feature
- 2Multiple malformation syndrome with limb defect as major feature
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