Russell-Silver Syndrome

Preferred Label : Russell-Silver Syndrome;

NCIt synonyms : Russell-Silver Dwarfism; Silver-Russell Dwarfism;

NCIt related terms : Silver-Russell Syndrome;

NCIt definition : A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present.;

Alternative definition : NICHD: A genetic syndrome characterized by prenatal growth restriction, postnatal failure to thrive, short stature, hypoglycemia, insulin resistance, characteristic triangular facial shape, asymmetry of limbs, and camptodactyly or clinodactyly. Many cases are due to DNA hypomethylation of the imprinting control region 1 on chromosome 11p15.5, affecting the imprinting of H19 and IGF2 genes or maternal uniparental disomy of chromosome 7.;

Details

Origin ID

C85068;

UMLS CUI

C0175693;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Silver-russell syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- 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 [ICD-11 More detail]
- Silver-Russell syndrome [MedDRA Preferred Term]
- Silver-Russell syndrome [MeSH Descriptor]
- Silver-Russell syndrome [MeSH concept]
- Silver-Russell syndrome [ORDO Disease]
- Silver-russell syndrome 1 [OMIM Phenotype]
- russell-silver syndrome [SNOMED Notion]
DO Cross reference
- Silver-Russell syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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 [PASCAL descriptor]
- Silver-Russell syndrome [DO Concept]
- Silver-Russell syndrome [ICD-11 More detail]
- Silver-Russell syndrome [MeSH concept]
- Silver-Russell syndrome [MedDRA Preferred Term]
- Silver-Russell syndrome [MeSH Descriptor]
- Silver-russell syndrome 1 [OMIM Phenotype]
- russell-silver syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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