nail-patella syndrome

Preferred Label : nail-patella syndrome;

MeSH definition : A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait.;

MeSH synonym : disease, fong; syndrome, osterreicher; pelvic horn syndrome; osterreicher syndrome; syndrome, pelvic horn; hereditary osteo-onychodysplasias; turner-kieser syndrome; syndrome, nail-patella; fong disease; syndrome, turner-kieser; turner kieser syndrome; osteo-onychodysplasia, hereditary; hereditary osteo-onychodysplasia; osteo onychodysplasia, hereditary; osteo-onychodysplasias, hereditary; onychoosteodysplasia; nail patella syndrome; hereditary Onycho-Osteodysplasia;

Wikipedia automatic translation : Nail–patella syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Nail–patella syndrome;

Details

Origin ID

D009261;

UMLS CUI

C0027341;

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)
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category]
- Nail-patella syndrome [ICD-11 Sub-sub category]
Currated CISMeF NLP mapping
- Hereditary onycho-osteodysplasia [MedDRA LLT]
- Nail patella syndrome [PASCAL descriptor]
- Nail-Patella Syndrome [NCIt concept]
- Nail-patella syndrome [ACR pathology]
- Nail-patella syndrome [MedDRA Preferred Term]
- Nail-patella syndrome [OMIM Phenotype]
- Nail-patella syndrome [ORDO Disease]
- Nail-patella syndrome (disorder) [SNOMED CT concept]
- nail patella syndrome [Disease (Nov.)]
- nail-patella syndrome [DO Concept]
- nail-patella syndrome [SNOMED Notion]
DO Cross reference
- nail-patella syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Onycho-patellar syndrome with eye involvement [ORDO Disease]
- Patellar dysostosis [ORDO Disease]
- Primary glomerular disease [ORDO Disease]
- Syndromic nail anomaly [ORDO Disease]
ORDO relation(s)
- Nail-patella syndrome [ORDO Disease]
Record concept(s)
- Nail-Patella syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- salcedo syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary onycho-osteodysplasia [MedDRA LLT]
- Nail patella syndrome [PASCAL descriptor]
- Nail-Patella Syndrome [NCIt concept]
- Nail-patella syndrome [OMIM Phenotype]
- Nail-patella syndrome [MedDRA Preferred Term]
- Nail-patella syndrome [ORDO Disease]
- Nail-patella syndrome [ACR pathology]
- Nail-patella syndrome (disorder) [SNOMED CT concept]
- nail patella syndrome [Disease (Nov.)]
- nail-patella syndrome [SNOMED Notion]
- nail-patella syndrome [DO Concept]
Validated automatic mappings to BTNT
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category (who)]

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