726081005: rachitisme hypophosphatémique héréditaire avec hypercalciurie (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

\constatation fonctionnelle\rachitisme\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\trouble métabolique\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\trouble métabolique\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of phosphorus metabolism\hypophosphatémie\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder of phosphate, calcium and vitamin D metabolism\trouble du métabolisme calcique (trouble)\Hypercalciuria\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder with defective osteoid mineralisation\rachitisme\rachitisme hypophosphatémique autosomique récessif\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

761931000241115 rachitisme hypophosphatémique héréditaire avec hypercalciurie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

948341000172113 HHRH - hereditary hypophosphatemic rickets with hypercalciuria fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

986981000172110 rachitisme hypophosphatémique héréditaire avec hypercalciurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	localisation d'une constatation (attribut)	Structure of epiphyseal plate (body structure)	true	Inferred relationship	Some	4
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	interprète (attribut)	Physiologic mineralization of bone, function (observable entity)	true	Inferred relationship	Some	3
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	a pour interprétation (attribut)	déficient	true	Inferred relationship	Some	3
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	est un(e) (attribut)	Hypercalciuria	true	Inferred relationship	Some
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	est un(e) (attribut)	Hereditary disorder of the urinary system	true	Inferred relationship	Some
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	est un(e) (attribut)	rachitisme hypophosphatémique autosomique récessif	true	Inferred relationship	Some
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	true	Inferred relationship	Some	1
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	localisation d'une constatation (attribut)	Urinary system structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
761931000241115	rachitisme hypophosphatémique héréditaire avec hypercalciurie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
948341000172113	HHRH - hereditary hypophosphatemic rickets with hypercalciuria	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
986981000172110	rachitisme hypophosphatémique héréditaire avec hypercalciurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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