Chromosome 22q11.2 duplication syndrome

Preferred Label : Chromosome 22q11.2 duplication syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 22q11.2 microduplication syndrome;

Inheritance : Autosomal dominant; Isolated cases;

Molecular basis : Contiguous gene syndrome caused by duplication (1.5 - 3.0 Mb) of chromosome 22q11.2;

Prefixed ID : #608363;

Détails

Origin ID

608363;

UMLS CUI

C2675369;

CISMeF manual mappings
- 22q11.2 duplication syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 22q11.2 duplication [ICD-11 More detail]
- 22q11.2 duplication syndrome [ICD-11 More detail]
- 22q11.2 duplication syndrome [ORDO Disease]
- Distal 22q11.2 microduplication syndrome [ORDO Disease]
- chromosome 22q11.2 microduplication syndrome [MeSH concept]
- chromosome 22q11.2 microduplication syndrome [DO Concept]
- chromosome 22q11.2 microduplication syndrome [MeSH Supplementary Concept]
DO Cross reference
- chromosome 22q11.2 microduplication syndrome [DO Concept]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal ridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysplastic ears [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nasal speech [HPO term]
- Specific learning disability [HPO term]
- Speech delay [HPO term]
- Sporadic [HPO term]
- Velopharyngeal insufficiency [HPO term]
ORDO concept(s)
- 22q11.2 duplication syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 22q11.2 duplication [ICD-11 More detail]
- 22q11.2 duplication syndrome [ORDO Disease]
- 22q11.2 duplication syndrome [ICD-11 More detail]
- 22q11.2 duplication syndrome (disorder) [SNOMED CT concept]
- Distal 22q11.2 microduplication syndrome [ORDO Disease]
- chromosome 22q11.2 microduplication syndrome [MeSH Supplementary Concept]
- chromosome 22q11.2 microduplication syndrome [MeSH concept]
- chromosome 22q11.2 microduplication syndrome [DO Concept]

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