Chromosome 13q14 deletion syndrome

Preferred Label : Chromosome 13q14 deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 13q deletion syndrome;

Description : The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).;

Inheritance : Autosomal dominant; Isolated cases;

Molecular basis : Contiguous gene deletion of at least 16Mb encompassing 39 genes on 13q14;

Neoplasia : Retinoblastoma;

Prefixed ID : #613884;

Details

Origin ID

613884;

UMLS CUI

C3151302;

Currated CISMeF NLP mapping
- 13q14 deletion [ICD-11 More detail]
- Monosomy 13q14 [ORDO Disease]
- Monosomy 13q14 syndrome (disorder) [SNOMED CT concept]
- chromosome 13q14 deletion syndrome [DO Concept]
DO Cross reference
- chromosome 13q14 deletion syndrome [DO Concept]
False automatic mappings
- 13q deletion syndrome [MeSH concept]
HPO term(s)
- Anteverted ears [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Bulbous nose [HPO term]
- Deep philtrum [HPO term]
- Delayed speech and language development [HPO term]
- Dolichocephaly [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Frontal bossing [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Intellectual disability [HPO term]
- Retinoblastoma [HPO term]
- Sporadic [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- Monosomy 13q14 [ORDO Disease]
See also inter- (CISMeF)
- 13q deletion syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 13q14 deletion [ICD-11 More detail]
- Monosomy 13q14 [ORDO Disease]
- chromosome 13q14 deletion syndrome [DO Concept]

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