Silver-Russell syndrome

Preferred Label : Silver-Russell syndrome;

MeSH definition : Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.;

MeSH synonym : Syndrome, Silver-Russell; Silver-Russell Dwarfism; Dwarfism, Silver-Russell; Silver Russell Dwarfism; Dwarfism, Silver Russell; russell silver syndrome; syndrome, russell silver; silver russell syndrome; Russell-Silver syndrome; Russell-Silver Syndromes; Syndrome, Russell-Silver; Syndromes, Russell-Silver;

CISMeF synonym : Silver-Russell; Russell Dwarfism, Silver; Silver-Russell's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Silver-russell syndrome;

Details

Origin ID

D056730;

UMLS CUI

C0175693;

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)
- Autosomal dominant spastic paraplegia type 17 [ORDO Disease]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Silver-russell syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Russell-Silver Syndrome [NCIt concept]
- Russell-Silver dwarfism [ACR pathology]
- Russell-Silver syndrome (disorder) [SNOMED CT concept]
- Silver Russell syndrome [Disease (Nov.)]
- Silver-Russell syndrome [PASCAL descriptor]
- Silver-Russell syndrome [DO Concept]
- Silver-Russell syndrome [MedDRA Preferred Term]
- Silver-Russell syndrome [ICD-11 More detail]
- Silver-Russell syndrome [ORDO Disease]
- Silver-russell syndrome 1 [OMIM Phenotype]
- russell-silver syndrome [SNOMED Notion]
DO Cross reference
- Silver-Russell syndrome [DO Concept]
False automatic mappings
- Autosomal dominant spastic paraplegia type 17 [ICD-11 More detail]
Manual NTBT mappings (CISMeF)
- Genetic malformation syndrome with short stature [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
ORDO relation(s)
- Silver-Russell syndrome [ORDO Disease]
Record concept(s)
- Silver-Russell syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Russell-Silver syndrome, X-Linked [MeSH Supplementary Concept]
See also
- beckwith-wiedemann syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Russell-Silver Syndrome [NCIt concept]
- Russell-Silver dwarfism [ACR pathology]
- Russell-Silver syndrome (disorder) [SNOMED CT concept]
- Silver Russell syndrome [Disease (Nov.)]
- Silver-Russell syndrome [ORDO Disease]
- Silver-Russell syndrome [DO Concept]
- Silver-Russell syndrome [PASCAL descriptor]
- Silver-Russell syndrome [ICD-11 More detail]
- Silver-Russell syndrome [MedDRA Preferred Term]
- Silver-russell syndrome 1 [OMIM Phenotype]
- russell-silver syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]

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