Terms & Properties

Preferred Name:  Pallister-Killian Syndrome

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.

Label:  Pallister-Killian Syndrome

NCI Thesaurus Code:  C75458 (Search for linked caDSR metadata)   (search value sets)

NCI Metathesaurus Link:  C0265449  (see NCI Metathesaurus info)

Synonyms & Abbreviations: (see Synonym Details)

Pallister-Killian Syndrome

External Source Codes: 

UMLS CUI

C0265449

Other Properties:

Name	Value (qualifiers indented underneath)
code	C75458
Contributing_Source	Cellosaurus
Contributing_Source	NICHD
Legacy Concept Name	Pallister_Killian_Syndrome
Semantic_Type	Disease or Syndrome

Additional Concept Data: 

Defined Fully by Roles: No

URL:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C75458