OMOP Concept 37116391
Preaxial polydactyly, colobomata, intellectual disability syndrome
StandardConditionSNOMED733088002Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Preaxial polydactyly, colobomata, intellectual disability syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537888 | Pfeiffer Mayer syndrome | Non-standard |
Synonyms
Alternative names recorded for Preaxial polydactyly, colobomata, intellectual disability syndrome across source vocabularies.
- Pfeiffer Mayer syndrome
- Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)
- síndrome de polidactilia preaxial, colobomas y discapacidad intelectual
- síndrome de polidactilia preaxial, colobomas y discapacidad intelectual (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(61)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Coloboma of eye
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Hereditary disorder of the visual system
- 1Multiple malformation syndrome with limb defect as major feature
- 1Radial polydactyly
- 2Autosomal hereditary disorder
- 2Congenital anomaly of eye
- 2Congenital malformation of thumb
- 2Developmental disorder
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Intellectual disability
- 2Lesion of eye
- 2Multiple system malformation syndrome
- 2Polydactyly
- 2Visual system disorder
- 3Abnormal behavior
- 3Anomaly of eye
- 3Congenital anomaly of digit
- 3Congenital anomaly of hand
- 3Congenital anomaly of head
- 3Congenital anomaly of visual system
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