OMOP Concept 37160939
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome
StandardConditionSNOMED1172594000Disorder
Maps from
0
Descendants
0
Valid from
30 Sept 2021
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome across source vocabularies.
- Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome (disorder)
- síndrome congénito de agenesia de labios mayores o escroto, malformación cerebelosa, distrofia corneal, dismorfia facial
- síndrome de agenesia labioescrotal congénita, malformación cerebelosa, distrofia corneal, dismorfia facial
- síndrome de agenesia labioescrotal congénita, malformación cerebelosa, distrofia corneal, dismorfia facial (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(86)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital corneal dystrophy
- 1Congenital malformation of cerebellum
- 1Congenital malformation of genital organs
- 1Developmental hereditary disorder
- 1Disorder of pelvic region of trunk
- 1Genetic intellectual disability
- 1Global developmental delay
- 1Hereditary corneal dystrophy
- 1Hereditary disorder of nervous system
- 1Multiple malformation syndrome with facial defects as major feature
- 1Neurodevelopmental delay
- 1Reproductive system hereditary disorder
- 2Autosomal hereditary disorder
- 2Cerebellar disorder
- 2Congenital anomaly of brain
- 2Congenital anomaly of face
- 2Congenital structural abnormality of cornea
- 2Corneal dystrophy
- 2Developmental delay
- 2Developmental disorder
- 2Disorder of abdominopelvic segment of trunk
- 2Disorder of nervous system
- 2Disorder of reproductive system
- 2Finding of pelvic region of trunk
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