Potocki-Lupski syndrome

Preferred Label : Potocki-Lupski syndrome;

MeSH synonym : Potocki-Lupski syndrome (dup(17)(p11.2p11.2)); duplication 17p11.2 syndrome; chromosome 17p11.2 duplication syndrome; Trisomy 17p11 2; Chromosome 17, trisomy 17p11 2; Duplication 17p11 2;

Details

Origin ID

C538355;

UMLS CUI

C2931246;

CISMeF manual mappings
- Potocki-Lupski syndrome [DO Concept]
Currated CISMeF NLP mapping
- 17p11.2 microduplication syndrome [ORDO Disease]
- 17p11.2 microduplication syndrome (disorder) [SNOMED CT concept]
- Potocki-Lupski Syndrome [NCIt concept]
- Potocki-Lupski syndrome [ICD-11 More detail]
- Potocki-lupski syndrome [OMIM Phenotype]
DO Cross reference
- Potocki-Lupski syndrome [DO Concept]
MeSH term(s) associated for indexing
- Smith-Magenis syndrome [MeSH Descriptor]
- abnormalities, multiple [MeSH Descriptor]
- chromosome disorders [MeSH Descriptor]
- chromosome duplication [MeSH Descriptor]
Record concept(s)
- Potocki-Lupski syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17p11.2 microduplication syndrome [ORDO Disease]
- 17p11.2 microduplication syndrome (disorder) [SNOMED CT concept]
- Potocki-Lupski Syndrome [NCIt concept]
- Potocki-Lupski syndrome [DO Concept]
- Potocki-lupski syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients