pallister killian syndrome

Preferred Label : pallister killian syndrome;

CISMeF synonym : hexasomy 12p, mosaic;

MeSH synonym : isochromosome 12p syndrome; Pallister-Killian syndrome; Teschler-Nicola-Killian syndrome; Pallister-Killian mosaic syndrome; Tetrasomy 12p, mosaic;

Détails

Origin ID

C538105;

UMLS CUI

C0265449;

Automatic exact mappings (from CISMeF team)
- Pallister-Killian syndrome [MedDRA Preferred Term]
- Tetrasomy 12p mosaicism [ICD-11 More detail]
Currated CISMeF NLP mapping
- Pallister-Killian Syndrome [NCIt concept]
- Pallister-Killian syndrome (disorder) [Inactive SNOMED CT concept]
- Pallister-killian syndrome [OMIM Phenotype]
- Tetrasomy 12p [ORDO Disease]
- Tetrasomy 12p syndrome (disorder) [SNOMED CT concept]
- tetrasomy 12p [SNOMED Notion]
MeSH term(s) associated for indexing
- chromosome disorders [MeSH Descriptor]
- chromosomes, human, pair 12 [MeSH Descriptor]
Record concept(s)
- Pallister Killian syndrome [MeSH concept]
- hexasomy 12p, mosaic [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pallister-Killian Syndrome [NCIt concept]
- Pallister-Killian syndrome [MedDRA Preferred Term]
- Pallister-Killian syndrome (disorder) [Inactive SNOMED CT concept]
- Pallister-killian syndrome [OMIM Phenotype]
- Tetrasomy 12p [ORDO Disease]
- Tetrasomy 12p syndrome (disorder) [SNOMED CT concept]
- tetrasomy 12p [SNOMED Notion]

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