Sclerosteosis - CISMeF

Preferred Label : Sclerosteosis;

NCIt synonyms : Cortical Hyperostosis with Syndactyly;

Alternative definition : NICHD: An autosomal recessive form of craniotubular hyperostosis due to loss-of-function mutation(s) in the SOST gene, encoding sclerostin. Clinical features include tall stature, enlarged jaw and facial bones, and cranial nerve compression leading to hearing loss and facial palsy. About two-thirds of patients have syndactyly and/or nail malformations. Increased intracranial pressure due to the thickened calvaria and skull base can occur.;

Details

Origin ID

C131133;

UMLS CUI

C0265301;

Automatic exact mappings (from CISMeF team)
- Sclerosteosis [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Sclerosteosis [ORDO Disease]
- Sclerosteosis [MeSH concept]
- Sclerosteosis [PASCAL descriptor]
- Sclerosteosis [ICD-11 More detail]
- Sclerosteosis (disorder) [SNOMED CT concept]
- sclerosteosis [SNOMED Notion]
- sclerosteosis [DO Concept]
- sclerosteosis [MeSH Supplementary Concept]
- sclerosteosis [Disease (Nov.)]
DO Cross reference
- sclerosteosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sclerosteosis [ORDO Disease]
- Sclerosteosis [PASCAL descriptor]
- Sclerosteosis [MeSH concept]
- Sclerosteosis [ICD-11 More detail]
- Sclerosteosis (disorder) [SNOMED CT concept]
- Sclerosteosis 1 [OMIM Phenotype]
- sclerosteosis [SNOMED Notion]
- sclerosteosis [DO Concept]
- sclerosteosis [MeSH Supplementary Concept]
- sclerosteosis [Disease (Nov.)]
- sclerosteosis 1 [DO Concept]
Validated automatic mappings to BTNT
- Sclerosteosis 1 [OMIM Phenotype]
- sclerosteosis 1 [DO Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SOST Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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