Potocki-Lupski Syndrome

Preferred Label : Potocki-Lupski Syndrome;

NCIt synonyms : 17p11.2 Duplication Syndrome; PTLS;

CISMeF acronym : PTLS;

NCIt definition : A rare genetic disorder characterized by hypotonia, failure to thrive, mental retardation, developmental disorders, congenital anomalies, and autism spectrum disorders. The majority of patients harbor a microduplication of chromosome 17p11.;

Details

Origin ID

C124846;

UMLS CUI

C2931246;

Currated CISMeF NLP mapping
- 17p11.2 microduplication syndrome [ORDO Disease]
- 17p11.2 microduplication syndrome (disorder) [SNOMED CT concept]
- Potocki-Lupski syndrome [ICD-11 More detail]
- Potocki-Lupski syndrome [DO Concept]
- Potocki-Lupski syndrome [MeSH Supplementary Concept]
- Potocki-Lupski syndrome [MeSH concept]
- Potocki-lupski syndrome [OMIM Phenotype]
DO Cross reference
- Potocki-Lupski syndrome [DO 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 [DO Concept]
- Potocki-Lupski syndrome [MeSH Supplementary Concept]
- Potocki-lupski syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 17 [NCIt concept]

Keyword's position in hierarchy(ies) :

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