Ankylosing vertebral hyperostosis with tylosis

Preferred Label : Ankylosing vertebral hyperostosis with tylosis;

CISMeF acronym : DISH;

Type : Other, mainly phenotypes with suspected mendelian basis;

Included titles and symbols : Diffuse idiopathic skeletal hyperostosis; DISH;

Description : Beardwell (1969) described a family of Greek Cypriot extraction in which at least 8 persons in 4 sibships in 2 generations were known to have a combination of ankylosing vertebral hyperostosis and tylosis (see 144200). The tylosis was a punctate hyperkeratosis of the soles and palms. In addition, 6 persons had tylosis alone; thus, these may have been 2 independent genetic traits in this kindred. (This condition is sometimes called Forestier disease, although Forestier described senile ankylosing hyperostosis (Forestier and Rotes-Querol, 1950) and, before Beardwell's paper, familial occurrence had never been noted.) The family contained instances of male-to-male transmission. No member had the spinal disease without tylosis. No further families were known to Beardwell (1978). Involvement of the appendicular skeleton was recognized by Resnick et al. (1975), who proposed the designation diffuse idiopathic skeletal hyperostosis (DISH). The prevalence of DISH was studied in various population groups by Utsinger (1985). Although;

Inheritance : Autosomal dominant;

Prefixed ID : 106400;

Details

Origin ID

106400;

UMLS CUI

C0020498;

Automatic exact mappings (from CISMeF team)
- Ankylosing vertebral hyperostosis with tylosis [ICD-11 More detail]
- Dual-probe in Situ Hybridization [NCIt concept]
Currated CISMeF NLP mapping
- Ankylosing hyperostosis [ICD-11 Subcategory]
- Ankylosing vertebral hyperostosis with tylosis [ORDO Disease]
- Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) [SNOMED CT concept]
- Diffuse Idiopathic Skeletal Hyperostosis [NCIt concept]
- Diffuse idiopathic skeletal hyperostosis [MedDRA Preferred Term]
- Disseminated idiopathic skeletal hyperostosis (disorder) [SNOMED CT concept]
- diffuse idiopathic skeletal hyperostosis [Disease (Nov.)]
- diffuse idiopathic skeletal hyperostosis [DO Concept]
- diffuse idiopathic skeletal hyperostosis [Radlex concept]
- hyperostosis, diffuse idiopathic skeletal [MeSH concept]
DO Cross reference
- diffuse idiopathic skeletal hyperostosis [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Punctate palmar hyperkeratosis [HPO term]
- Vertebral hyperostosis [HPO term]
ORDO concept(s)
- Ankylosing vertebral hyperostosis with tylosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ankylosing hyperostosis [ICD-11 Subcategory]
- Ankylosing hyperostosis [Forestier] [ICD-10 Sub-category]
- Ankylosing vertebral hyperostosis [ICD-9 code]
- Ankylosing vertebral hyperostosis [MedDRA LLT]
- Ankylosing vertebral hyperostosis with tylosis [ORDO Disease]
- Diffuse Idiopathic Skeletal Hyperostosis [NCIt concept]
- Diffuse idiopathic skeletal hyperostosis [MedDRA Preferred Term]
- Disseminated idiopathic skeletal hyperostosis (disorder) [SNOMED CT concept]
- Forestier and Rotes-Querol syndrome [MedDRA LLT]
- Forestier disease [MedDRA LLT]
- Senile ankylosing vertebral hyperostosis [MedDRA Preferred Term]
- Senile ankylosing vertebral hyperostosis [MedDRA LLT]
- ankylosing vertebral hyperostosis [SNOMED Notion]
- diffuse idiopathic skeletal hyperostosis [Radlex concept]
- diffuse idiopathic skeletal hyperostosis [DO Concept]
- diffuse idiopathic skeletal hyperostosis [Disease (Nov.)]
- disseminated idiopathic skeletal hyperostosis [SNOMED Notion]
- hyperostosis, diffuse idiopathic skeletal [MeSH Descriptor]
- hyperostosis, diffuse idiopathic skeletal [MeSH concept]
Validated automatic mappings to NTBT
- hyperostosis, diffuse idiopathic skeletal [MeSH Descriptor]

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