Ring chromosome 14 syndrome

Preferred Label : Ring chromosome 14 syndrome;

Type : Phenotype, molecular basis known;

Inheritance : Isolated cases;

Molecular basis : Caused by a ring chromosome 14;

Prefixed ID : #616606;

Details

Origin ID

616606;

UMLS CUI

C2930916;

Currated CISMeF NLP mapping
- Extra ring chromosome 14 [ICD-11 More detail]
- Ring Chromosome 14 Syndrome [NCIt concept]
- Ring chromosome 14 syndrome [ORDO Disease]
- Ring chromosome 14 syndrome (disorder) [SNOMED CT concept]
- ring chromosome 14 syndrome [MeSH concept]
- ring chromosome 14 syndrome [MeSH Supplementary Concept]
HPO term(s)
- Anteverted nares [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Flat occiput [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Pigmentary retinopathy [HPO term]
- Poor speech [HPO term]
- Short neck [HPO term]
- Sporadic [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Ring chromosome 14 syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Extra ring chromosome 14 [ICD-11 More detail]
- Ring Chromosome 14 Syndrome [NCIt concept]
- Ring chromosome 14 syndrome [ORDO Disease]
- Ring chromosome 14 syndrome (disorder) [SNOMED CT concept]
- ring chromosome 14 syndrome [MeSH concept]
- ring chromosome 14 syndrome [MeSH Supplementary Concept]

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