K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes

Preferred Label : K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes;

NCIt related terms : DEND Syndrome;

Alternative definition : NICHD: A condition characterized by K ATP channel-associated permanent neonatal diabetes mellitus accompanied by neurological manifestations of developmental delay and epilepsy that may be associated with the severity of the mutation(s).;

NCI Metathesaurus CUI : CL514519;

Détails

Origin ID

C131845;

UMLS CUI

C4303593;

Currated CISMeF NLP mapping
- DEND - [Developmental delay - epilepsy - neonatal diabetes] syndrome [ICD-11 More detail]
- DEND syndrome [ORDO Disease]
- Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) [SNOMED CT concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
- Pancreas [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_cell_origin
- Islet Cell [NCIt concept]
disease_has_normal_tissue_origin
- Islet of Langerhans [NCIt concept]
disease_has_primary_anatomic_site
- Digestive System [NCIt concept]
- Endocrine System [NCIt concept]
- Islet of Langerhans [NCIt concept]
- Pancreas [NCIt concept]
related_to_genetic_biomarker
- ABCC8 Gene [NCIt concept]
- KCNJ11 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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