Chromosome xp11.23-p11.22 duplication syndrome

Preferred Label : Chromosome xp11.23-p11.22 duplication syndrome;

Type : Phenotype, molecular basis known;

Inheritance : X-linked dominant;

Molecular basis : Contiguous gene syndrome associated with duplication (4.5 - 9.2Mb) of chromosome Xp11.22-p11.23;

Prefixed ID : #300801;

Détails

Origin ID

300801;

UMLS CUI

C2749022;

Currated CISMeF NLP mapping
- Microduplication Xp11.22p11.23 syndrome [ORDO Disease]
- Microduplication Xp11.22p11.23 syndrome (disorder) [SNOMED CT concept]
- Xp11.22p11.23 duplication [ICD-11 More detail]
- chromosome Xp11.23-P11.22 duplication syndrome [MeSH concept]
- chromosome Xp11.23-P11.22 duplication syndrome [MeSH Supplementary Concept]
- chromosome Xp11.23-p11.22 duplication syndrome [DO Concept]
DO Cross reference
- chromosome Xp11.23-p11.22 duplication syndrome [DO Concept]
HPO term(s)
- EEG abnormality [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Hoarse voice [HPO term]
- Intellectual disability, borderline [HPO term]
- Nasal speech [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Poor speech [HPO term]
- Precocious puberty [HPO term]
- Shyness [HPO term]
- Syndactyly [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Microduplication Xp11.22p11.23 syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microduplication Xp11.22p11.23 syndrome [ORDO Disease]
- chromosome Xp11.23-P11.22 duplication syndrome [MeSH Supplementary Concept]
- chromosome Xp11.23-P11.22 duplication syndrome [MeSH concept]
- chromosome Xp11.23-p11.22 duplication syndrome [DO Concept]

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