jacobsen distal 11q deletion syndrome

Preferred Label : jacobsen distal 11q deletion syndrome;

MeSH definition : 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.; 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.;

MeSH synonym : jacobsen syndrome; deletion disorder, 11q; 11q deletion disorder; 11q deletion syndrome; 11q terminal deletion disorder; partial 11q monosomy syndrome; chromosome 11q deletion syndrome; 11q- deletion syndrome; 11q- Deletion Syndromes; Deletion Syndrome, 11q-;

CISMeF synonym : Jacobsen; jacobsen distal 11q deletion's syndrome; syndrome, 11q deletion; disorder, 11q deletion; disorder, 11q23 deletion; syndrome, jacobsen; syndrome, paris-trousseau;

MeSH hyponym : Paris-Trousseau thrombocytopenia; Paris Trousseau Thrombocytopenia; Thrombocytopenia, Paris-Trousseau; Thrombocytopenia, Paris-Trousseau Type; Paris-Trousseau Type Thrombocytopenia; Paris-Trousseau Type Thrombocytopenias; Thrombocytopenia, Paris Trousseau Type; Type Thrombocytopenia, Paris-Trousseau; 11q23 Deletion Disorder; Deletion Disorder, 11q23; Paris-Trousseau Syndrome; Paris Trousseau Syndrome; Jacobsen Thrombocytopenia; Thrombocytopenia, Jacobsen;

Wikipedia link : https://en.wikipedia.org/wiki/Jacobsen syndrome;

Details

Origin ID

D054868;

UMLS CUI

C0795841;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Jacobsen Syndrome [DO Concept]
- Paris-Trousseau thrombocytopenia [ORDO Disease]
- Thrombocytopenia, paris-trousseau type [OMIM Phenotype]
- del(11q23) [NCIt concept]
Currated CISMeF NLP mapping
- 11q partial monosomy syndrome [SNOMED Notion]
- Distal partial deletion of long arm of chromosome 11 (disorder) [SNOMED CT concept]
- Jacobsen Syndrome [NCIt concept]
- Jacobsen syndrome [PASCAL descriptor]
- Jacobsen syndrome [Disease (Nov.)]
- Jacobsen syndrome [ICD-11 More detail]
- Jacobsen syndrome [OMIM Phenotype]
- Jacobsen syndrome [ORDO Disease]
DO Cross reference
- Jacobsen Syndrome [DO Concept]
Manual BTNT mappings - CISMeF
- Thrombocytopenia with congenital dyserythropoietic anemia [ORDO Disease]
- X-linked thrombocytopenia with normal platelets [ORDO Disease]
ORDO relation(s)
- Jacobsen syndrome [ORDO Disease]
Record concept(s)
- Paris-Trousseau thrombocytopenia [MeSH concept]
- jacobsen distal 11q deletion syndrome [MeSH concept]
See also inter- (CISMeF)
- 11q partial monosomy syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 11q partial monosomy syndrome [SNOMED Notion]
- 11q partial monosomy syndrome (disorder) [SNOMED CT concept]
- Distal partial deletion of long arm of chromosome 11 (disorder) [SNOMED CT concept]
- Jacobsen Syndrome [NCIt concept]
- Jacobsen syndrome [ORDO Disease]
- Jacobsen syndrome [OMIM Phenotype]
- Jacobsen syndrome [Disease (Nov.)]
- Jacobsen syndrome [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- Paris-Trousseau syndrome [ICD-11 More detail]
- Paris-Trousseau thrombocytopenia [ICD-11 More detail]

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