Chromosome 17q11.2 duplication syndrome, 1.4-mb

Preferred Label : Chromosome 17q11.2 duplication syndrome, 1.4-mb;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nf1 microduplication syndrome;

Prefixed ID : #618874;

Details

Origin ID

618874;

UMLS CUI

C3495679;

Currated CISMeF NLP mapping
- NF1 microduplication syndrome [MeSH concept]
- NF1 microduplication syndrome [MeSH Supplementary Concept]
HPO term(s)
- Adducted thumb [HPO term]
- Alopecia of scalp [HPO term]
- Ankyloglossia [HPO term]
- Bifid nasal tip [HPO term]
- Bilateral cleft lip and palate [HPO term]
- Brisk reflexes [HPO term]
- Cafe-au-lait spot [HPO term]
- Childhood onset [HPO term]
- Delayed speech and language development [HPO term]
- Enamel hypoplasia [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypospadias [HPO term]
- Iris coloboma [HPO term]
- Macrocephaly [HPO term]
- Macroorchidism [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Mitral valve prolapse [HPO term]
- Pectus excavatum [HPO term]
- Polymicrogyria [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Thin upper lip vermilion [HPO term]
- Unilateral microphthalmos [HPO term]
ORDO concept(s)
- 17q11.2 microduplication syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17q11.2 microduplication syndrome (disorder) [SNOMED CT concept]
- NF1 microduplication syndrome [MeSH concept]
- NF1 microduplication syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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