Potocki-Shaffer syndrome

Preferred Label : Potocki-Shaffer syndrome;

CISMeF synonym : deletion of chromosome 11p11.2; exostoses, multiple, type II;

MeSH synonym : proximal 11P deletion syndrome; chromosome 11p11.2 deletion syndrome; P11PDS; Defect11 syndrome;

Details

Origin ID

C538356;

UMLS CUI

C1832588;

Automatic exact mappings (from CISMeF team)
- Exostoses, multiple, type II [OMIM Phenotype]
- Potocki-Shaffer syndrome [ICD-11 More detail]
- Potocki-Shaffer syndrome [DO Concept]
Currated CISMeF NLP mapping
- Chromosome 11p11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Potocki Shaffer syndrome [Disease (Nov.)]
- Potocki-Shaffer Syndrome [NCIt concept]
- Potocki-Shaffer syndrome [PASCAL descriptor]
- Potocki-Shaffer syndrome [ORDO Disease]
- Potocki-shaffer syndrome [OMIM Phenotype]
DO Cross reference
- Potocki-Shaffer syndrome [DO Concept]
MeSH term(s) associated for indexing
- chromosome deletion [MeSH Descriptor]
- chromosome disorders [MeSH Descriptor]
- chromosomes, human, pair 11 [MeSH Descriptor]
- exostoses, multiple hereditary [MeSH Descriptor]
ORDO relation(s)
- Potocki-Shaffer syndrome [ORDO Disease]
Record concept(s)
- Potocki-Shaffer syndrome [MeSH concept]
- deletion of chromosome 11p11.2 [MeSH concept]
- exostoses, multiple, type II [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 11p11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Potocki Shaffer syndrome [Disease (Nov.)]
- Potocki-Shaffer Syndrome [NCIt concept]
- Potocki-Shaffer syndrome [ORDO Disease]
- Potocki-Shaffer syndrome [PASCAL descriptor]
- Potocki-Shaffer syndrome [DO Concept]
- Potocki-shaffer syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

Main resources

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