Weismann-netter syndrome

Preferred Label : Weismann-netter syndrome;

Symbol : WNS;

CISMeF acronym : WNS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Toxopachyosteose diaphysaire tibio-peroniere; Bowing of legs, anterior, with dwarfism;

Description : The diagnostic hallmarks of Weismann-Netter syndrome (WNS) are anterior bowing of the diaphyses of the tibia and fibula, broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature. The diaphyses of other long bones may be similarly affected, but usually to a milder degree. Some WNS patients have also displayed mental retardation (summary by Peippo et al., 2009).;

Inheritance : Autosomal dominant;

Prefixed ID : %112350;

Détails

Origin ID

112350;

UMLS CUI

C1862172;

Automatic exact mappings (from CISMeF team)
- WN, Rat Strain [NCIt concept]
- Weismann-Netter syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Weismann Netter syndrome [MeSH concept]
- Weismann Netter syndrome (disorder) [SNOMED CT concept]
- Weismann-Netter syndrome [ORDO Disease]
- weismann netter syndrome [MeSH Supplementary Concept]
HPO term(s)
- Anterior tibial bowing [HPO term]
- Autosomal dominant inheritance [HPO term]
- Calvarial hyperostosis [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Diaphyseal bowing of long bones [HPO term]
- Dwarfism [HPO term]
- Fibular bowing [HPO term]
- Genu varus [HPO term]
- Horizontal sacrum [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Lateral femoral bowing [HPO term]
- Scoliosis [HPO term]
- Severe short stature [HPO term]
- Small sella turcica [HPO term]
- Squared iliac bones [HPO term]
ORDO concept(s)
- Weismann-Netter syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Weismann Netter syndrome [MeSH concept]
- Weismann Netter syndrome (disorder) [SNOMED CT concept]
- Weismann-Netter syndrome [ORDO Disease]
- weismann netter syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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