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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
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
3440391001000112 Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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
3440391001000112 Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose 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
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Finding site Osteoid tissue true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a Renal tubular disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a Autosomal dominant hypophosphatemic bone disease true Inferred relationship Existential restriction modifier (core metadata concept)
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Due to Specific renal tubule transport defect (disorder) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Finding site Renal tubule structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Associated morphology Impaired mineralization (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Associated morphology Impaired mineralization (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Finding site Renal tubule structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Due to Specific renal tubule transport defect (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a Urinary complication true Inferred relationship Existential restriction modifier (core metadata concept)
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a Metabolic renal disease true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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