Pallister-Killian Syndrome

Preferred Label : Pallister-Killian Syndrome;

NCIt synonyms : Pallister Killian Syndrome;

NCIt definition : A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin.;

Details

Origin ID

C75458;

UMLS CUI

C0265449;

Automatic exact mappings (from CISMeF team)
- Pallister-Killian syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Pallister Killian syndrome [MeSH 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]
- pallister killian syndrome [MeSH Supplementary Concept]
- tetrasomy 12p [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pallister Killian syndrome [MeSH 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]
- pallister killian syndrome [MeSH Supplementary Concept]
- tetrasomy 12p [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 12 [NCIt concept]

Keyword's position in hierarchy(ies) :

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