| Descriptor English: | Jacobsen Distal 11q Deletion Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Deleción Distal 11q de Jacobsen
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| Descriptor Portuguese: | Síndrome da Deleção Distal 11q de Jacobsen | ||||||
| Descriptor French: | Syndrome de Jacobsen | ||||||
| Entry term(s): |
11q Deletion Disorder 11q Deletion Syndrome 11q Terminal Deletion Disorder 11q- Deletion Syndrome 11q- Deletion Syndromes 11q23 Deletion Disorder Chromosome 11q Deletion Syndrome Deletion Disorder, 11q Deletion Disorder, 11q23 Deletion Syndrome, 11q- Jacobsen Syndrome Jacobsen Thrombocytopenia Paris Trousseau Syndrome Paris Trousseau Thrombocytopenia Paris-Trousseau Syndrome Paris-Trousseau Thrombocytopenia Paris-Trousseau Type Thrombocytopenia Paris-Trousseau Type Thrombocytopenias Partial 11q Monosomy Syndrome Thrombocytopenia, Jacobsen Thrombocytopenia, Paris Trousseau Type Thrombocytopenia, Paris-Trousseau Thrombocytopenia, Paris-Trousseau Type Type Thrombocytopenia, Paris-Trousseau |
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| Tree number(s): |
C15.378.140.855.440 C16.131.260.440 C16.320.180.440 |
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| RDF Unique Identifier: | https://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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Chromosomes, Human, Pair 11 (1986-2007) |
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| Public MeSH Note: | 2008 |
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| History Note: | 2008 |
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| DeCS ID: | 52622 | ||||||
| Unique ID: | D054868 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2008/01/01 | ||||||
| Date of Entry: | 2007/07/09 | ||||||
| Revision Date: | 2018/06/29 |
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Jacobsen Distal 11q Deletion Syndrome
- Preferred
Paris-Trousseau Thrombocytopenia
- Narrower
| 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. |
| Preferred term | Jacobsen Distal 11q Deletion Syndrome |
| Entry term(s) |
11q Deletion Disorder 11q Deletion Syndrome 11q Terminal Deletion Disorder 11q- Deletion Syndrome 11q- Deletion Syndromes Chromosome 11q Deletion Syndrome Deletion Disorder, 11q Deletion Syndrome, 11q- Jacobsen Syndrome Partial 11q Monosomy Syndrome |
| Concept UI |
M0508593 |
| Scope note | A component of Jacobsen Syndrome linked to FLI1 gene at 11q23. |
| Preferred term | Paris-Trousseau Thrombocytopenia |
| Entry term(s) |
11q23 Deletion Disorder Deletion Disorder, 11q23 Jacobsen Thrombocytopenia Paris Trousseau Syndrome Paris Trousseau Thrombocytopenia Paris-Trousseau Syndrome Paris-Trousseau Type Thrombocytopenia Paris-Trousseau Type Thrombocytopenias Thrombocytopenia, Jacobsen Thrombocytopenia, Paris Trousseau Type Thrombocytopenia, Paris-Trousseau Thrombocytopenia, Paris-Trousseau Type Type Thrombocytopenia, Paris-Trousseau |
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