MeSH Browser

MeSH Heading: Jacobsen Distal 11q Deletion Syndrome
Tree Number(s): C15.378.140.855.440; C15.378.243.937.440; C16.131.260.440; C16.320.180.440
Unique ID: D054868
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D054868
Scope Note: A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia.
Entry Term(s): 11q Deletion Disorder; 11q Deletion Syndrome; 11q Terminal Deletion Disorder; 11q- Deletion Syndrome; 11q23 Deletion Disorder; Chromosome 11q Deletion Syndrome; Jacobsen Syndrome; Jacobsen Thrombocytopenia; Paris-Trousseau Syndrome; Paris-Trousseau Thrombocytopenia; Partial 11q Monosomy Syndrome; Thrombocytopenia, Paris-Trousseau Type
Previous Indexing: Chromosomes, Human, Pair 11 (1986-2007)
Public MeSH Note: 2008
History Note: 2008
Date Established: 2008/01/01
Date of Entry: 2007/07/09
Revision Date: 2023/02/26

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0508419
Scope Note: A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia.
Terms: Jacobsen Distal 11q Deletion Syndrome Preferred Term
Term UI T694908
Date04/04/2007
LexicalTag EPO
ThesaurusID NLM (2008); 11q Terminal Deletion Disorder
Term UI T694909
Date04/04/2007
LexicalTag NON
ThesaurusID; 11q Deletion Disorder
Term UI T694910
Date04/04/2007
LexicalTag NON
ThesaurusID; 11q Deletion Syndrome
Term UI T694911
Date04/04/2007
LexicalTag NON
ThesaurusID; Jacobsen Syndrome
Term UI T694912
Date04/04/2007
LexicalTag EPO
ThesaurusID; Chromosome 11q Deletion Syndrome
Term UI T782121
Date12/14/2010
LexicalTag NON
ThesaurusID; Partial 11q Monosomy Syndrome
Term UI T782122
Date12/14/2010
LexicalTag NON
ThesaurusID; 11q- Deletion Syndrome
Term UI T841783
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Concept UI: M0508593
Scope Note: A component of Jacobsen Syndrome linked to FLI1 gene at 11q23.
Terms: Paris-Trousseau Thrombocytopenia Preferred Term
Term UI T695232
Date04/09/2007
LexicalTag EPO
ThesaurusID; Paris-Trousseau Syndrome
Term UI T695231
Date04/09/2007
LexicalTag EPO
ThesaurusID; Jacobsen Thrombocytopenia
Term UI T695233
Date04/09/2007
LexicalTag EPO
ThesaurusID; 11q23 Deletion Disorder
Term UI T696318
Date04/27/2007
LexicalTag NON
ThesaurusID; Thrombocytopenia, Paris-Trousseau Type
Term UI T807847
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013)

Jacobsen Distal 11q Deletion Syndrome MeSH Descriptor Data 2024