acromelic frontonasal dysplasia

Preferred Label : acromelic frontonasal dysplasia;

Définition CISMeF : Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.;

Détails

Origin ID

C535657;

UMLS CUI

C0796182;

Automatic exact mappings (from CISMeF team)
- Acromelic frontonasal dysplasia [ICD-11 More detail]
- Neutrophilic dermatosis, acute febrile [OMIM Phenotype]
CISMeF manual mappings
- Acromelic frontonasal dysplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acromelic frontonasal dysostosis [OMIM Phenotype]
- Acromelic frontonasal dysplasia [ORDO Disease]
MeSH term(s) associated for indexing
- acromegaly [MeSH Descriptor]
ORDO relation(s)
- Acromelic frontonasal dysplasia [ORDO Disease]
Record concept(s)
- Acromelic frontonasal dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acromelic frontonasal dysplasia [ORDO Disease]
- Acromelic frontonasal dysplasia (disorder) [SNOMED CT concept]

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