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783620009: Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3759533019 Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759536010 Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759537018 Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759534013 A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3759535014 A rare genetic renal tubular disease characterised by hypophosphataemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5591721000241115 hypophosphatémie dominante avec néphrolithiase et/ou ostéoporose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Finding site Osteoid tissue true Inferred relationship Some 1
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Associated morphology Dysplasia true Inferred relationship Some 1
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a Renal tubular disorder true Inferred relationship Some
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a Autosomal dominant hypophosphataemic bone disease true Inferred relationship Some
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Occurrence Congenital true Inferred relationship Some 1
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Due to Specific renal tubule transport defect false Inferred relationship Some 3
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Finding site Renal tubule structure (body structure) false Inferred relationship Some 2
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Occurrence Congenital false Inferred relationship Some 4
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Associated morphology Impaired mineralization false Inferred relationship Some 4
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Finding site Bone structure false Inferred relationship Some 4
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Occurrence Congenital true Inferred relationship Some 3
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Associated morphology Impaired mineralization true Inferred relationship Some 2
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Finding site Bone structure true Inferred relationship Some 2
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Occurrence Congenital true Inferred relationship Some 2
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Finding site Renal tubule structure (body structure) true Inferred relationship Some 3
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Due to Specific renal tubule transport defect true Inferred relationship Some 4
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a Urinary complication true Inferred relationship Some
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a Metabolic renal disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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