Branchiogenic-deafness syndrome

Preferred Label : Branchiogenic-deafness syndrome;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %609166;

Details

Origin ID

609166;

UMLS CUI

C1836673;

CISMeF manual mappings
- Branchiogenic deafness syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Branchiogenic deafness syndrome [ORDO Disease]
- Branchiogenic-Deafness syndrome [MeSH concept]
- Branchiogenic-Deafness syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of the middle ear ossicles [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Branchial cyst [HPO term]
- Branchial fistula [HPO term]
- Malformed ossicles [HPO term]
- Mixed hearing impairment [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short distal phalanx of finger [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Submucous cleft hard palate [HPO term]
- Trismus [HPO term]
ORDO concept(s)
- Branchiogenic deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Branchiogenic deafness syndrome [ORDO Disease]
- Branchiogenic deafness syndrome (disorder) [SNOMED CT concept]
- Branchiogenic-Deafness syndrome [MeSH Supplementary Concept]
- Branchiogenic-Deafness syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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