Zechi-ceide syndrome

Preferred Label : Zechi-ceide syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Occipital atretic cephalocele, unusual facies, and large feet;

Inheritance : Autosomal recessive;

Prefixed ID : 612916;

Details

Origin ID

612916;

UMLS CUI

C2752047;

Currated CISMeF NLP mapping
- Zechi Ceide syndrome (disorder) [SNOMED CT concept]
- Zechi-Ceide syndrome [MeSH concept]
- Zechi-Ceide syndrome [MeSH Supplementary Concept]
- Zechi-Ceide syndrome [ORDO Disease]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Cephalocele [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Intellectual disability [HPO term]
- Long foot [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Narrow palpebral fissure [HPO term]
- Oligodontia [HPO term]
- Prominent forehead [HPO term]
- Sandal gap [HPO term]
- Short distal phalanx of finger [HPO term]
- Short metatarsal [HPO term]
- Short palpebral fissure [HPO term]
- Small nail [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide nasal bridge [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Zechi-Ceide syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Zechi Ceide syndrome (disorder) [SNOMED CT concept]
- Zechi-Ceide syndrome [MeSH Supplementary Concept]
- Zechi-Ceide syndrome [MeSH concept]
- Zechi-Ceide syndrome [ORDO Disease]

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