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1269271003: Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5197537012 Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5197538019 Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5400696012 A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400697015 A rare genetic disease characterised by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterised by generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricaemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcaemia, and hypermagnesaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5197537012 Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5197538019 Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5197539010 A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. There are also additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia and hypermagnesemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5197540012 A rare genetic disease characterised by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterised by generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricaemia. There are also additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcaemia and hypermagnesaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400696012 A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400697015 A rare genetic disease characterised by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterised by generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricaemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcaemia, and hypermagnesaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Is a Neonatal renal disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Is a Fanconi syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Is a Nephrocalcinosis true Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Is a Neonatal disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Is a Genetic disease false Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Is a Hyperinsulinism false Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Finding site Renal tubule structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Occurrence Neonatal true Inferred relationship Existential restriction modifier (core metadata concept) 2
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Finding site Endocrine pancreatic structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Associated morphology Pathologic calcification true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Is a Neonatal metabolic disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Finding site Structure of parenchyma of kidney true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Is a Familial hyperinsulinemic hypoglycaemia true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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