Acrocraniofacial dysostosis

Preferred Label : Acrocraniofacial dysostosis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 201050;

Details

Origin ID

201050;

UMLS CUI

C1860145;

Automatic exact mappings (from CISMeF team)
- Acrocraniofacial dysostosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acrocraniofacial dysostosis [ORDO Disease]
- Kaplan Plauchu Fitch syndrome [MeSH concept]
- kaplan plauchu fitch syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal auditory evoked potentials [HPO term]
- Abnormality of the outer ear [HPO term]
- Abnormality of the vertebral column [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Craniosynostosis [HPO term]
- Downslanted palpebral fissures [HPO term]
- Hypotelorism [HPO term]
- Metatarsus adductus [HPO term]
- Micrognathia [HPO term]
- Natal tooth [HPO term]
- Oxycephaly [HPO term]
- Pectus excavatum [HPO term]
- Preauricular pit [HPO term]
- Prominent nasal bridge [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short 1st metacarpal [HPO term]
- Short first metatarsal [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Webbed neck [HPO term]
- Wide nose [HPO term]
- abnormal or absent auditory nerve and brainstem responses [HPO term]
ORDO concept(s)
- Acrocraniofacial dysostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocraniofacial dysostosis [ORDO Disease]
- Acrocraniofacial dysostosis (disorder) [SNOMED CT concept]
- Kaplan Plauchu Fitch syndrome [MeSH concept]
- kaplan plauchu fitch syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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