Witkop syndrome

Preferred Label : Witkop syndrome;

MeSH note : Autosomal dominant disorder characterized by nail dysplasia and congenitally missing permanent teeth; associated with mutations in the MSX1 gene;

MeSH synonym : dysplasia of nails with hypodontia; tooth and nail syndrome; Tooth-And-Nail syndrome; nail dysplasia with hypodontia;

Details

Origin ID

C536736;

UMLS CUI

C0406735;

Automatic exact mappings (from CISMeF team)
- Fried's tooth and nail syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Autosomal dominant hypodontia with nail dysplasia [ICD-11 More detail]
- Hypodontia and nail dysgenesis (disorder) [SNOMED CT concept]
- Hypodontia-dysplasia of nails syndrome [ORDO Disease]
- Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) [SNOMED CT concept]
- Tooth and Nail Syndrome [NCIt concept]
- Witkop syndrome [OMIM Phenotype]
- tooth and nail syndrome [DO Concept]
DO Cross reference
- tooth and nail syndrome [DO Concept]
Has phenotype(s) (HPO)
- Longitudinal ridging [HPO term]
- Sparse, fine hair [HPO term]
- Thin hair [HPO term]
MeSH term(s) associated for indexing
- anodontia [MeSH Descriptor]
- nails, malformed [MeSH Descriptor]
Record concept(s)
- Witkop syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) [SNOMED CT concept]
- Tooth and Nail Syndrome [NCIt concept]
- Witkop syndrome [OMIM Phenotype]
- tooth and nail syndrome [DO Concept]

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