Chromosome 18p deletion syndrome

Preferred Label : Chromosome 18p deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 18p- syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene syndrome caused by deletion of 18p11.21-p11.1;

Laboratory abnormalities : Deletion of chromosome 18p11.2; Contiguous gene deletion syndrome;

Prefixed ID : #146390;

Détails

Origin ID

146390;

UMLS CUI

C0432442;

Currated CISMeF NLP mapping
- 18p partial monosomy syndrome [SNOMED Notion]
- 18p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Chromosome 18p deletion syndrome [MeSH concept]
- Deletion 18p Syndrome [NCIt concept]
- Deletion of short arm of chromosome 18 (disorder) [SNOMED CT concept]
- Monosomy 18p [ORDO Disease]
- chromosome 18p deletion syndrome [DO Concept]
- chromosome 18p deletion syndrome [Disease (Nov.)]
- chromosome 18p deletion syndrome [MeSH Supplementary Concept]
DO Cross reference
- chromosome 18p deletion syndrome [DO Concept]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Decreased testicular size [HPO term]
- Dysplastic ears [HPO term]
- Dystonia [HPO term]
- Global developmental delay [HPO term]
- Gonadal dysgenesis [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Macrotia [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Radial deviation of finger [HPO term]
- Redundant neck skin [HPO term]
- Round face [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Sporadic [HPO term]
- Tooth malposition [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Monosomy 18p [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 18p deletion syndrome [MeSH concept]
- De Grouchy syndrome [ICD-11 More detail]
- Deletion 18p Syndrome [NCIt concept]
- Deletion of short arm of chromosome 18 (disorder) [SNOMED CT concept]
- Deletions of the short arm of chromosome 18 [ICD-11 Sub-sub category]
- Monosomy 18p [ORDO Disease]
- Partial deletion of the short arm of chromosome 18 [ORDO Disease]
- chromosome 18p deletion syndrome [MeSH Supplementary Concept]
- chromosome 18p deletion syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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