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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/726081005
http://purl.bioontology.org/ontology/SNOMEDCT/726081005
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|---|---|
| Preferred Name | Hereditary hypophosphatemic rickets with hypercalciuria |
| Definitions |
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.
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.
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.
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.
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| Synonyms |
HHRH - hereditary hypophosphataemic rickets with hypercalciuria
Hereditary hypophosphataemic rickets with hypercalciuria
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
HHRH - hereditary hypophosphatemic rickets with hypercalciuria
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. 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. 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. 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. |
|---|---|
| prefLabel | Hereditary hypophosphatemic rickets with hypercalciuria
|
| altLabel |
HHRH - hereditary hypophosphataemic rickets with hypercalciuria
Hereditary hypophosphataemic rickets with hypercalciuria
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
HHRH - hereditary hypophosphatemic rickets with hypercalciuria
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| Has interpretation | |
| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Has finding site | |
| interprets | |
| Effective time | 20170731
|
| cui | C1853271
|
| CTV3ID | XUvkz
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
|
| tui | T047
|
| Active | 1
|
| notation | 726081005
|
| type | |
| subClassOf | |
| Subset member | 447562003~MAPTARGET~E83.3
6011000124106~MAPTARGET~E83.52
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS E83.52
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
900000000000497000~MAPTARGET~XUvkz
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS E83.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS E83.31
6011000124106~MAPTARGET~E83.31
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~E83.5
447562003~MAPADVICE~ALWAYS E83.5
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