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733650000: Adult familial nephronophthisis with spastic quadriparesia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3472998010 Adult familial nephronophthisis with spastic quadriparesia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3472999019 Adult familial nephronophthisis with spastic quadriparesia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403849018 A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403850018 A rare, genetic, renal disease characterised by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3472998010 Adult familial nephronophthisis with spastic quadriparesia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3472999019 Adult familial nephronophthisis with spastic quadriparesia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3473000018 This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403849018 A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403850018 A rare, genetic, renal disease characterised by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3388281001000117 Adulte familiäre Nephronophthise-spastische Tetraparese-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911871000172114 syndrome de néphronophtise familiale de l'adulte-quadriparésie spastique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911871000172114 syndrome de néphronophtise familiale de l'adulte-quadriparésie spastique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388281001000117 Adulte familiäre Nephronophthise-spastische Tetraparese-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Adult familial nephronophthisis with spastic quadriparesia syndrome Is a Familial disease true Inferred relationship Existential restriction modifier (core metadata concept)
Adult familial nephronophthisis with spastic quadriparesia syndrome Is a Medullary cystic disease, adult type true Inferred relationship Existential restriction modifier (core metadata concept)
Adult familial nephronophthisis with spastic quadriparesia syndrome Is a Spastic quadraparesis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Adult familial nephronophthisis with spastic quadriparesia syndrome Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept) 2
Adult familial nephronophthisis with spastic quadriparesia syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Adult familial nephronophthisis with spastic quadriparesia syndrome Associated morphology Fibrocystic change true Inferred relationship Existential restriction modifier (core metadata concept) 3
Adult familial nephronophthisis with spastic quadriparesia syndrome Finding site Structure of medulla of kidney true Inferred relationship Existential restriction modifier (core metadata concept) 3
Adult familial nephronophthisis with spastic quadriparesia syndrome Finding site Skeletal muscle structure of right lower limb true Inferred relationship Existential restriction modifier (core metadata concept) 1
Adult familial nephronophthisis with spastic quadriparesia syndrome Finding site Structure of skeletal muscle of left upper limb true Inferred relationship Existential restriction modifier (core metadata concept) 4
Adult familial nephronophthisis with spastic quadriparesia syndrome Finding site Skeletal muscle structure of left lower limb true Inferred relationship Existential restriction modifier (core metadata concept) 5
Adult familial nephronophthisis with spastic quadriparesia syndrome Finding site Structure of skeletal muscle of right upper limb true Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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