OMOP Concept 45765797
MECP2 duplication syndrome
StandardConditionSNOMED702816000Disorder
Maps from
3
Descendants
0
Valid from
31 Jul 2014
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to MECP2 duplication syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537723 | Lubs X-linked mental retardation syndrome | Non-standard |
| Nebraska Lexicon | 702816000 | Lubs X-linked intellectual disability syndrome | Non-standard |
| Read | PJz3100 | MeCP2 duplication syndrome | Non-standard |
Synonyms
Alternative names recorded for MECP2 duplication syndrome across source vocabularies.
- Lubs X-linked intellectual disability syndrome
- Lubs X-linked mental retardation syndrome
- Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome
- Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
- Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)
- Proximal Xq28 duplication syndrome
- síndrome de discapacidad intelectual ligado al cromosoma X, tipo Lubs
- síndrome de duplicación de MECP2
- síndrome de duplicación de proteína 2 fijadora de metil-citosina fosfato-guanina
- síndrome de duplicación de proteína 2 fijadora de metil-citosina fosfato-guanina (trastorno)
- síndrome de duplicación Xq28 proximal
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(15)Roll up to these when you need a wider cohort.
- 1Anomaly of chromosome X
- 1MECP2 related disorder
- 1X-linked recessive hereditary disease
- 2Anomaly of sex chromosome
- 2X-linked hereditary disease
- 3Anomaly of chromosome pair
- 3Sex-linked hereditary disorder
- 4Congenital chromosomal disease
- 4Hereditary disease
- 5Chromosomal disorder
- 5Congenital disease
- 5Genetic disease
- 6Disease
- 6Disorder of fetus and/or newborn
- 7Clinical finding
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