Kenny-Caffey Syndrome Type 2

Preferred Label : Kenny-Caffey Syndrome Type 2;

Alternative definition : NICHD: An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.;

NCI Metathesaurus CUI : CL519129;

Details

Origin ID

C130993;

UMLS CUI

C4316787;

Automatic exact mappings (from CISMeF team)
- Kenny-Caffey syndrome, type 2 [MeSH concept]
Currated CISMeF NLP mapping
- Kenny-Caffey syndrome type 2 [DO Concept]
- Kenny-Caffey syndrome, type 2 [MeSH Supplementary Concept]
- Kenny-caffey syndrome, type 2 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kenny-Caffey syndrome, type 2 [MeSH Supplementary Concept]
- Kenny-caffey syndrome, type 2 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Autosomal dominant Kenny-Caffey syndrome [ORDO Disease]
- Kenny Caffey syndrome [Disease (Nov.)]
- Kenny syndrome (disorder) [SNOMED CT concept]
- Kenny-Caffey syndrome [MedDRA Preferred Term]
- Kenny-Caffey syndrome [ORDO Disease]
- kenny syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- FAM111A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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