Libellé préféré : Syndrome tumoral hamartomateux lié à PTEN;
Définition CISMeF : PTEN hamartoma tumor syndrome (PHTS) is a term defining a group of clinically heterogeneous
disorders united by a germline PTEN mutation and the involvement of derivatives of
all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently,
subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome,
Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to
PHTS.;
Acronyme CISMeF : PHTS;
Identifiant d'origine : M0499746;
CUI UMLS : C1959582;
Alignements automatiques CISMeF supervisés
- Correspondances UMLS (même concept)
- Record lié au concept
- Type(s) sémantique(s)
- Voir aussi inter- (CISMeF)
PTEN hamartoma tumor syndrome (PHTS) is a term defining a group of clinically heterogeneous
disorders united by a germline PTEN mutation and the involvement of derivatives of
all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently,
subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome,
Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to
PHTS.
