OMOP Concept 36716388
Congenital cataract with hypertrichosis and intellectual disability syndrome
StandardConditionSNOMED722379001Disorder
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 Congenital cataract with hypertrichosis and intellectual disability syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537959 | CAHMR syndrome | Non-standard |
| Nebraska Lexicon | 722379001 | Congenital cataract with hypertrichosis and intellectual disability syndrome | Non-standard |
Synonyms
Alternative names recorded for Congenital cataract with hypertrichosis and intellectual disability syndrome across source vocabularies.
- CAHMR (cataract, hypertrichosis, mental retardation) syndrome
- CAHMR syndrome
- Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)
- síndrome de catarata congénita con hipertricosis y discapacidad intelectual
- síndrome de catarata congénita con hipertricosis y discapacidad intelectual (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(69)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital cataract
- 1Congenital hypertrichosis
- 1Developmental hereditary disorder
- 1Hereditary disorder of the integument
- 1Hereditary disorder of the visual system
- 1Intellectual disability
- 1Multiple system malformation syndrome
- 2Autosomal hereditary disorder
- 2Behavior finding
- 2Cataract
- 2Congenital anomaly of hair
- 2Congenital anomaly of lens
- 2Congenital malformation syndrome
- 2Developmental disorder
- 2Disorder of integument
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Hypertrichosis
- 2Impaired cognition
- 2Intellectual ability - finding
- 2Neurodevelopmental disorder
- 2Visual system disorder
- 3Cataract finding
- 3Cognitive function finding
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