vohwinkel syndrome

Preferred Label : vohwinkel syndrome;

MeSH note : Deafness, congenital, with keratopachydermia and constrictions of fingers and toes;

MeSH synonym : keratoderma hereditarium mutilans; mutilating keratoderma; congenital deafness with keratopachydermia and constrictions of fingers and toes; palmoplantar keratoderma mutilans vohwinkel; ppk mutilans vohwinkel; palmoplantar keratoderma mutilans;

Détails

Origin ID

C536457;

UMLS CUI

C0265964;

Automatic exact mappings (from CISMeF team)
- Connexin palmoplantar keratoderma with sensorineural deafness [ICD-11 More detail]
Currated CISMeF NLP mapping
- Keratoderma hereditarium mutilans [ORDO Disease]
- Mutilating keratoderma (disorder) [SNOMED CT concept]
- Vohwinkel syndrome [DO Concept]
- Vohwinkel syndrome [OMIM Phenotype]
- mutilating keratoderma [SNOMED Notion]
DO Cross reference
- Vohwinkel syndrome [DO Concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- keratoderma, palmoplantar [MeSH Descriptor]
Record concept(s)
- Vohwinkel syndrome [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Keratoderma hereditarium mutilans [ORDO Disease]
- Mutilating keratoderma (disorder) [SNOMED CT concept]
- Vohwinkel syndrome [OMIM Phenotype]
- Vohwinkel syndrome [DO Concept]
- mutilating keratoderma [SNOMED Notion]

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