724062000: Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3429696013	Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429697016	Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429698014	Syndrome with characteristics of the onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. It has been described in two sisters. Their mother had ptosis, muscle weakness and ophthalmoplegia, and southern blot analysis revealed heteroplasmic partial duplication of the mitochondrial DNA. Maternal inheritance of this partial duplication was suggested as the cause of the disease in the two sisters.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429696013	Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429697016	Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429698014	Syndrome with characteristics of the onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. It has been described in two sisters. Their mother had ptosis, muscle weakness and ophthalmoplegia, and southern blot analysis revealed heteroplasmic partial duplication of the mitochondrial DNA. Maternal inheritance of this partial duplication was suggested as the cause of the disease in the two sisters.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
957741000172113	syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
957741000172113	syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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