Potocki-shaffer syndrome

Preferred Label : Potocki-shaffer syndrome;

CISMeF acronym : PSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Proximal 11p deletion syndrome; PSS; Chromosome 11p11.2 deletion syndrome; Defect11 syndrome; P11pDS;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene syndrome caused by deletion of 2.1 Mb on chromosome 11p12-p11.2;

Prefixed ID : #601224;

Details

Origin ID

601224;

UMLS CUI

C1832588;

Automatic exact mappings (from CISMeF team)
- Peeling skin syndrome [ORDO Disease]
- Perceived Stress Scale [NCIt concept]
- Portal systemic shunt [MedDRA LLT]
- Potocki-Shaffer syndrome [ICD-11 More detail]
- Potocki-Shaffer syndrome [DO Concept]
- Proportionate short stature (disorder) [SNOMED CT concept]
- parasitology [MeSH Descriptor]
- porcine stress syndrome [SNOMED Notion]
- systemic scleroderma [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 [MeSH concept]
- Potocki-Shaffer syndrome [MeSH Supplementary Concept]
- Potocki-Shaffer syndrome [ORDO Disease]
DO Cross reference
- Potocki-Shaffer syndrome [DO Concept]
False automatic mappings
- State of Palestine [NCIt concept]
HPO term(s)
- 2-5 finger cutaneous syndactyly [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Broad forehead [HPO term]
- Contiguous gene syndrome [HPO term]
- Craniofacial dysostosis [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Epicanthus [HPO term]
- High forehead [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Micropenis [HPO term]
- Multiple exostoses [HPO term]
- Parietal foramina [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Short philtrum [HPO term]
- Single transverse palmar crease [HPO term]
- Sparse lateral eyebrow [HPO term]
- Telecanthus [HPO term]
- Turricephaly [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide nasal bridge [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Potocki-Shaffer syndrome [ORDO Disease]
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 [MeSH Supplementary Concept]
- Potocki-Shaffer syndrome [MeSH concept]
- Potocki-Shaffer syndrome [PASCAL descriptor]
- Potocki-Shaffer syndrome [DO Concept]

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