Deafness, congenital, with vitiligo and achalasia

Preferred Label : Deafness, congenital, with vitiligo and achalasia;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %221350;

Details

Origin ID

221350;

UMLS CUI

C1857339;

Currated CISMeF NLP mapping
- Deafness - vitiligo - achalasia [ICD-11 More detail]
- Deafness, vitiligo, achalasia syndrome (disorder) [SNOMED CT concept]
- Deafness-vitiligo-achalasia syndrome [ORDO Disease]
- deafness, congenital, with vitiligo and achalasia [MeSH concept]
- deafness, congenital, with vitiligo and achalasia [MeSH Supplementary Concept]
HPO term(s)
- Achalasia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Congenital hearing loss [HPO term]
- Hearing impairment [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Vitiligo [HPO term]
ORDO concept(s)
- Deafness-vitiligo-achalasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness-vitiligo-achalasia syndrome [ORDO Disease]
- deafness, congenital, with vitiligo and achalasia [MeSH Supplementary Concept]
- deafness, congenital, with vitiligo and achalasia [MeSH concept]

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