Potocki-Shaffer Syndrome

Preferred Label : Potocki-Shaffer Syndrome;

NCIt synonyms : Potocki Shaffer Syndrome;

NCIt definition : A very rare genetic syndrome caused by deletions on the proximal short arm of chromosome 11. It is characterized by the presence of multiple exostoses and enlarged parietal foramina.;

Details

Origin ID

C75456;

UMLS CUI

C1832588;

Automatic exact mappings (from CISMeF team)
- 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 [PASCAL descriptor]
- Potocki-Shaffer syndrome [MeSH concept]
- Potocki-Shaffer syndrome [MeSH Supplementary Concept]
- Potocki-Shaffer syndrome [ORDO Disease]
- Potocki-shaffer syndrome [OMIM Phenotype]
DO Cross reference
- Potocki-Shaffer syndrome [DO 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 [ORDO Disease]
- Potocki-Shaffer syndrome [MeSH Supplementary Concept]
- Potocki-Shaffer syndrome [MeSH concept]
- Potocki-Shaffer syndrome [PASCAL descriptor]
- Potocki-Shaffer syndrome [DO Concept]
- Potocki-shaffer syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 11 [NCIt concept]

Keyword's position in hierarchy(ies) :

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