Primary Hypertrophic Osteoarthropathy

Preferred Label : Primary Hypertrophic Osteoarthropathy;

NCIt definition : A rare disorder characterized by hypertrophy of the bones of the distal extremities, periostosis of the tubular bones, digital clubbing, and skin changes including coarse facial features, acne, and hyperhydrosis.;

Details

Origin ID

C85023;

UMLS CUI

C0029411;

Automatic exact mappings (from CISMeF team)
- Other hypertrophic osteoarthropathy [ICD-10 Sub-category]
- Other hypertrophic osteoarthropathy [ICD-10 Sub-category (who)]
- Pachydermoperiostosis [ICD-11 More detail]
- Primary hypertrophic osteoarthropathy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Clubbed nail pachydermoperiostosis [ICD-10 Sub-category (who)]
- Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [OMIM Phenotype]
- Pachydermoperiostosis [MedDRA Preferred Term]
- Pachydermoperiostosis [PASCAL descriptor]
- Pachydermoperiostosis [ORDO Disease]
- Pachydermoperiostosis of nail (disorder) [SNOMED CT concept]
- Pachydermoperiostosis syndrome (disorder) [SNOMED CT concept]
- Primary hypertrophic osteoarthropathy [ORDO Disease]
- osteoarthropathy, primary hypertrophic [MeSH Descriptor]
- osteoarthropathy, primary hypertrophic [MeSH concept]
- pachydermoperiostosis syndrome [SNOMED Notion]
- primary hypertrophic osteoarthropathy [DO Concept]
- primary hypertrophic osteoarthropathy [Disease (Nov.)]
DO Cross reference
- primary hypertrophic osteoarthropathy [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Clubbed nail pachydermoperiostosis [ICD-10 Sub-category (who)]
- Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [OMIM Phenotype]
- Pachydermoperiostosis [ORDO Disease]
- Pachydermoperiostosis [MedDRA Preferred Term]
- Pachydermoperiostosis of nail (disorder) [SNOMED CT concept]
- Pachydermoperiostosis syndrome (disorder) [SNOMED CT concept]
- Primary hypertrophic osteoarthropathy [ORDO Disease]
- hypertrophic osteoarthropathy primary autosomal recessive 1 [Disease (Nov.)]
- osteoarthropathy, primary hypertrophic [MeSH concept]
- osteoarthropathy, primary hypertrophic [MeSH Descriptor]
- pachydermoperiostosis syndrome [SNOMED Notion]
- primary hypertrophic osteoarthropathy [DO Concept]
- primary hypertrophic osteoarthropathy [Disease (Nov.)]
Validated automatic mappings to BTNT
- hypertrophic osteoarthropathy primary autosomal recessive 1 [Disease (Nov.)]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- HPGD Gene [NCIt concept]
- SLCO2A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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