Kenny-Caffey Syndrome

Preferred Label : Kenny-Caffey Syndrome;

Alternative definition : NICHD: A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.;

Details

Origin ID

C130991;

UMLS CUI

C0265291;

Currated CISMeF NLP mapping
- Kenny Caffey syndrome [MeSH concept]
- Kenny Caffey syndrome [Disease (Nov.)]
- Kenny syndrome (disorder) [SNOMED CT concept]
- Kenny-Caffey syndrome [ORDO Disease]
- Kenny-Caffey syndrome [MedDRA Preferred Term]
- Kenny-Caffey syndrome [DO Concept]
- Kenny-caffey syndrome [OMIM phenotypic series]
- kenny syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Kenny-Caffey syndrome [ORDO Disease]
- Kenny Caffey syndrome [MeSH concept]
- Kenny syndrome (disorder) [SNOMED CT concept]
- Kenny-Caffey syndrome [ORDO Disease]
- Kenny-Caffey syndrome [MedDRA Preferred Term]
- Kenny-Caffey syndrome, type 2 [MeSH Supplementary Concept]
- Kenny-caffey syndrome, type 2 [OMIM Phenotype]
- kenny syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Autosomal dominant Kenny-Caffey syndrome [ORDO Disease]
- Kenny-Caffey syndrome, type 2 [MeSH Supplementary Concept]
- Kenny-caffey syndrome, type 2 [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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