Nail-Patella Syndrome

Preferred Label : Nail-Patella Syndrome;

NCIt synonyms : Hereditary Osteo-Onychodysplasia; Nail Patella Syndrome;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the LMX1B gene. It is characterized by fingernail deformities, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, nephropathy, and glaucoma.;

Alternative definition : NICHD: A rare autosomal dominant syndrome caused by mutations in the LMX1B gene, which is characterized by dysplastic nails, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, and nephropathy.;

Details

Origin ID

C75120;

UMLS CUI

C0027341;

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
- Nail patella syndrome [PASCAL descriptor]
- Nail-Patella syndrome [MeSH 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 [MeSH Descriptor]
- nail-patella syndrome [SNOMED Notion]
DO Cross reference
- nail-patella syndrome [DO 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 [MeSH concept]
- Nail-patella syndrome [ORDO Disease]
- Nail-patella syndrome [OMIM Phenotype]
- Nail-patella syndrome [MedDRA Preferred Term]
- Nail-patella syndrome [ACR pathology]
- Nail-patella syndrome (disorder) [SNOMED CT concept]
- nail patella syndrome [Disease (Nov.)]
- nail-patella syndrome [DO Concept]
- nail-patella syndrome [MeSH Descriptor]
- nail-patella syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- LMX1B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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