yemenite deaf-blind hypopigmentation syndrome

Preferred Label : yemenite deaf-blind hypopigmentation syndrome;

MeSH synonym : yemenite (Warburg) deaf-blind hypopigmentation syndrome; warburg thomsen syndrome;

Details

Origin ID

C536771;

UMLS CUI

C1866425;

Currated CISMeF NLP mapping
- Deaf blind hypopigmentation syndrome Yemenite type (disorder) [SNOMED CT concept]
- Deaf blind hypopigmentation syndrome, Yemenite type [ORDO Disease]
- Yemenite deaf-blind hypopigmentation syndrome [OMIM Phenotype]
- yemenite deaf-blind hypopigmentation syndrome [Disease (Nov.)]
Has phenotype(s) (HPO)
- Severe early sensorineural hearing loss [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- blindness [MeSH Descriptor]
- deafness [MeSH Descriptor]
- hypopigmentation [MeSH Descriptor]
ORDO relation(s)
- Deaf blind hypopigmentation syndrome, Yemenite type [ORDO Disease]
Record concept(s)
- Yemenite deaf-blind hypopigmentation syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deaf blind hypopigmentation syndrome Yemenite type (disorder) [SNOMED CT concept]
- Deaf blind hypopigmentation syndrome, Yemenite type [ORDO Disease]
- Yemenite deaf-blind hypopigmentation syndrome [OMIM Phenotype]
- yemenite deaf-blind hypopigmentation syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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