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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
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
911871000172114 syndrome de néphronophtise familiale de l'adulte-quadriparésie spastique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
909141000172112 volwassen familiale nefronoftise, spastische quadriparese-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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