Wolf-Hirschhorn Syndrome

Preferred Label : Wolf-Hirschhorn Syndrome;

NCIt synonyms : 4p Deletion Syndrome;

NCIt definition : A genetic syndrome resulting from a partial deletion on the short arm of chromosome 4 (4p deletion syndrome). It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure with malformations of the spine, hands, and feet, congenital heart defects, and genitourinary malformations.;

Details

Origin ID

C35528;

UMLS CUI

C1956097;

Currated CISMeF NLP mapping
- 4p partial monosomy syndrome [SNOMED Notion]
- 4p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Wolf Hirchhorn Syndrome [Disease (Nov.)]
- Wolf Hirschhorn syndrome (disorder) [SNOMED CT concept]
- Wolf-Hirschhorn syndrome [PASCAL descriptor]
- Wolf-Hirschhorn syndrome [DO Concept]
- Wolf-Hirschhorn syndrome [ICD-11 More detail]
- Wolf-Hirschhorn syndrome [MedDRA Preferred Term]
- Wolf-Hirschhorn syndrome [MeSH concept]
- Wolf-Hirschhorn syndrome [ORDO Disease]
- Wolf-hirschhorn syndrome [OMIM Phenotype]
- chromosome 4 short arm deletion [MeSH Supplementary Concept]
- wolf-hirschhorn syndrome [MeSH Descriptor]
DO Cross reference
- Wolf-Hirschhorn syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 4p partial monosomy syndrome [SNOMED Notion]
- 4p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Deletion of short arm of chromosome 4 [ICD-10 Sub-category]
- Wolf Hirchhorn Syndrome [Disease (Nov.)]
- Wolf Hirschhorn syndrome (disorder) [SNOMED CT concept]
- Wolf-Hirschhorn syndrome [ORDO Disease]
- Wolf-Hirschhorn syndrome [PASCAL descriptor]
- Wolf-Hirschhorn syndrome [DO Concept]
- Wolf-Hirschhorn syndrome [ICD-11 More detail]
- Wolf-Hirschhorn syndrome [MedDRA Preferred Term]
- Wolf-Hirschhorn syndrome [MeSH concept]
- Wolf-hirschhorn syndrome [OMIM Phenotype]
- wolf-hirschhorn syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- NSD2 Gene [NCIt concept]
- NSD2 wt Allele [NCIt concept]
disease_has_molecular_abnormality
- Loss of Chromosome 4p [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 4 [NCIt concept]

Keyword's position in hierarchy(ies) :

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