Jacobsen Distal 11q Deletion Syndrome
"Jacobsen Distal 11q Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A clinically recognized 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. Most patients have a THROMBOCYTOPENIA and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia.
| Descriptor ID |
D054868
|
| MeSH Number(s) |
C15.378.140.855.440 C16.131.260.440 C16.320.180.440
|
| Concept/Terms |
Jacobsen Distal 11q Deletion Syndrome- Jacobsen Distal 11q Deletion Syndrome
- 11q Deletion Disorder
- Deletion Disorder, 11q
- Disorder, 11q Deletion
- 11q Deletion Syndrome
- 11q- Deletion Syndrome
- Paris-Trousseau Syndrome
- Paris Trousseau Syndrome
- Syndrome, Paris-Trousseau
- Chromosome 11q Deletion Syndrome
- Partial 11q Monosomy Syndrome
- 11q Terminal Deletion Disorder
- Jacobsen Syndrome
- Syndrome, Jacobsen
Paris-Trousseau Thrombocytopenia- Paris-Trousseau Thrombocytopenia
- Paris Trousseau Thrombocytopenia
- Thrombocytopenia, Paris-Trousseau
- 11q23 Deletion Disorder
- Deletion Disorder, 11q23
- Disorder, 11q23 Deletion
- Jacobsen Thrombocytopenia
- Thrombocytopenia, Jacobsen
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Below are MeSH descriptors whose meaning is more general than "Jacobsen Distal 11q Deletion Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Jacobsen Distal 11q Deletion Syndrome".
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