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726081005: Hereditary hypophosphatemic rickets with hypercalciuria (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
3447992010 Hereditary hypophosphatemic rickets with hypercalciuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447993017 Hereditary hypophosphatemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447994011 Hereditary hypophosphataemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447995012 HHRH - hereditary hypophosphatemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447996013 HHRH - hereditary hypophosphataemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403527019 A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403528012 A rare hereditary disorder of renal phosphate wasting characterised by hypophosphataemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447992010 Hereditary hypophosphatemic rickets with hypercalciuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447993017 Hereditary hypophosphatemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447994011 Hereditary hypophosphataemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447995012 HHRH - hereditary hypophosphatemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447996013 HHRH - hereditary hypophosphataemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447997016 A hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447998014 A hereditary renal phosphate-wasting disorder characterised by hypophosphataemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403527019 A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403528012 A rare hereditary disorder of renal phosphate wasting characterised by hypophosphataemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452731001000113 Rachitis, hypophosphatämische, mit Hyperkalziurie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
948341000172113 HHRH - hereditary hypophosphatemic rickets with hypercalciuria fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
986981000172110 rachitisme hypophosphatémique héréditaire avec hypercalciurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
948341000172113 HHRH - hereditary hypophosphatemic rickets with hypercalciuria fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
986981000172110 rachitisme hypophosphatémique héréditaire avec hypercalciurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452731001000113 Rachitis, hypophosphatämische, mit Hyperkalziurie 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
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Is a Hypercalciuria true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Is a Hereditary disorder of the urinary system true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Is a rachitisme hypophosphatémique autosomique récessif false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Finding site Osteoid tissue true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Finding site Urinary system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Finding site Structure of epiphyseal plate (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Interprets Physiologic mineralization of bone, function (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Has interpretation Deficient true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Is a Autosomal recessive hypophosphatemic bone disease true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Is a Rickets true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Interprets Calcium measurement, urine true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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