OMOP Concept 36716154
Oculocerebrofacial syndrome Kaufman type
StandardConditionSNOMED722056009Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Oculocerebrofacial syndrome Kaufman type via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537013 | Kaufman oculocerebrofacial syndrome | Non-standard |
| Nebraska Lexicon | 722056009 | Oculocerebrofacial syndrome Kaufman type | Non-standard |
Synonyms
Alternative names recorded for Oculocerebrofacial syndrome Kaufman type across source vocabularies.
- Kaufman oculocerebrofacial syndrome
- Oculocerebrofacial syndrome Kaufman type (disorder)
- síndrome oculocerebrofacial tipo Kaufman
- síndrome oculocerebrofacial tipo Kaufman (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(46)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital anomaly of eye
- 1Congenital microcephaly
- 1Developmental hereditary disorder
- 1Hereditary disorder of the visual system
- 1Intellectual disability
- 1Multiple malformation syndrome with facial defects as major feature
- 2Anomaly of eye
- 2Autosomal hereditary disorder
- 2Behavior finding
- 2Congenital anomaly of face
- 2Congenital anomaly of head
- 2Congenital anomaly of visual system
- 2Developmental disorder
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Impaired cognition
- 2Intellectual ability - finding
- 2Microcephaly
- 2Multiple system malformation syndrome
- 2Neurodevelopmental disorder
- 2Visual system disorder
- 3Cognitive function finding
- 3Congenital malformation
- 3Congenital malformation syndrome
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