osteoarthropathy, primary hypertrophic

Preferred Label : osteoarthropathy, primary hypertrophic;

MeSH definition : A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists.;

MeSH synonym : primary hypertrophic osteoarthropathy; hypertrophic osteoarthropathy, primary; pachydermoperiostosis; idiopathic hypertrophic osteoarthropathy; hypertrophic osteoarthropathy, idiopathic; osteoarthropathy, idiopathic hypertrophic; Touraine-Solente-Gole syndrome; touraine solente gole syndrome; pachydermoperiostosis, autosomal recessive; autosomal recessive pachydermoperiostosis; recessive pachydermoperiostosis, autosomal; hypertrophic osteoarthropathy, primary, autosomal recessive;

CISMeF synonym : Currarino; autosomal recessive pachydermoperiostoses; hypertrophic osteoarthropathies, idiopathic; hypertrophic osteoarthropathies, primary; idiopathic hypertrophic osteoarthropathies; osteoarthropathies, idiopathic hypertrophic; osteoarthropathies, primary hypertrophic; pachydermoperiostoses; pachydermoperiostoses, autosomal recessive; primary hypertrophic osteoarthropathies; recessive pachydermoperiostoses, autosomal; syndrome, Touraine-Solente-Gole;

MeSH hyponym : cranioosteoarthropathy; Cranioosteoarthropathies; Familial Idiopathic Osteoarthropathy Of Childhood; Currarino Idiopathic Osteoarthropathy; Osteoarthropathy, Currarino Idiopathic;

Related MeSH term : digital clubbing, isolated congenital; hypertrophic osteoarthropathy, primary, autosomal dominant; Pachydermoperiostosis, Autosomal Dominant; Autosomal Dominant Pachydermoperiostoses; Autosomal Dominant Pachydermoperiostosis; Pachydermoperiostoses, Autosomal Dominant; Primary Hypertrophic Osteoarthropathy, Autosomal Dominant; Clubbing of Digits; Acropachy, Hereditary; Acropachies, Hereditary; Hereditary Acropachies; Hereditary Acropachy;

MeSH annotation : OSTEOARTHROPATHY, SECONDARY HYPERTROPHIC is also available;

Details

Origin ID

D010004;

UMLS CUI

C0029411;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Clubbing [HPO term]
- Cranio-osteoarthropathy [ICD-11 More detail]
- Cranio-osteoarthropathy [ORDO Disease]
- Cranioosteoarthropathy (disorder) [SNOMED CT concept]
- Currarino syndrome [PASCAL descriptor]
- Currarino syndrome [MedDRA Preferred Term]
- Currarino syndrome [ORDO Disease]
- Digital Clubbing [NCIt concept]
- Digital clubbing [ICD-11 More detail]
- Digital clubbing, isolated congenital [OMIM Phenotype]
- Hereditary clubbing (disorder) [SNOMED CT concept]
- Hypertrophic osteoarthropathy, primary, autosomal dominant [OMIM Phenotype]
- Isolated congenital digital clubbing [ORDO Disease]
- Other hypertrophic osteoarthropathy [ICD-10 Sub-category]
- Other hypertrophic osteoarthropathy [ICD-10 Sub-category (who)]
- Pachydermoperiostosis [ICD-11 More detail]
- Phoar2-enteropathy syndrome [OMIM Phenotype]
- Primary hypertrophic osteoarthropathy [ICD-11 More detail]
CISMeF manual mappings
- Pachydermoperiostosis of nail (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [OMIM Phenotype]
- Pachydermoperiostosis [PASCAL descriptor]
- Pachydermoperiostosis [MedDRA Preferred Term]
- Pachydermoperiostosis [ORDO Disease]
- Pachydermoperiostosis syndrome (disorder) [SNOMED CT concept]
- Primary Hypertrophic Osteoarthropathy [NCIt concept]
- Primary hypertrophic osteoarthropathy [ORDO Disease]
- pachydermoperiostosis syndrome [SNOMED Notion]
- primary hypertrophic osteoarthropathy [DO Concept]
- primary hypertrophic osteoarthropathy [Disease (Nov.)]
DO Cross reference
- primary hypertrophic osteoarthropathy [DO Concept]
Manual NTBT mappings (CISMeF)
- Bone disease with increased bone density and metaphyseal or diaphyseal involvement [ORDO Disease]
- Dysostosis with predominant vertebral and costal involvement [ORDO Disease]
- Genetic dermis disorder [ORDO Disease]
- Non-chondrodysplastic malformation syndrome affecting bones [ORDO Disease]
- Other dermis disorder [ORDO Disease]
- Syndromic anorectal malformation [ORDO Disease]
- Syndromic uterovaginal malformation [ORDO Disease]
ORDO relation(s)
- Primary hypertrophic osteoarthropathy [ORDO Disease]
Record concept(s)
- cranioosteoarthropathy [MeSH concept]
- digital clubbing, isolated congenital [MeSH concept]
- hypertrophic osteoarthropathy, primary, autosomal dominant [MeSH concept]
- osteoarthropathy, primary hypertrophic [MeSH concept]
Related MeSH Supplementary Concept(s)
- reginato schiapachasse syndrome [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- osteoarthropathy, secondary hypertrophic [MeSH Descriptor]
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 [MedDRA Preferred Term]
- Pachydermoperiostosis [ORDO Disease]
- Pachydermoperiostosis of nail (disorder) [SNOMED CT concept]
- Pachydermoperiostosis syndrome (disorder) [SNOMED CT concept]
- Primary Hypertrophic Osteoarthropathy [NCIt concept]
- Primary hypertrophic osteoarthropathy [ORDO Disease]
- hypertrophic osteoarthropathy primary autosomal recessive 1 [Disease (Nov.)]
- 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.)]

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