90505000: Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation fonctionnelle\rachitisme\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets

\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\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\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\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\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\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\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\Autosomal recessive hypophosphatemic vitamin D refractory rickets

\Disease\Disorder of joint region\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\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\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\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\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\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\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\Disease\trouble métabolique\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\Disease\trouble métabolique\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\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\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphatemic bone disease\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder with defective osteoid mineralisation\rachitisme\rachitisme hypophosphatémique autosomique récessif\Autosomal recessive hypophosphatemic vitamin D refractory rickets

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	Structure of epiphyseal plate (body structure)	true	Inferred relationship	Some	3
Autosomal recessive hypophosphatemic vitamin D refractory rickets	interprète (attribut)	Physiologic mineralization of bone, function (observable entity)	true	Inferred relationship	Some	2
Autosomal recessive hypophosphatemic vitamin D refractory rickets	a pour interprétation (attribut)	déficient	true	Inferred relationship	Some	2
Autosomal recessive hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	rachitisme	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	Autosomal recessive hypophosphatemic bone disease	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	Familial x-linked hypophosphatemic vitamin D refractory rickets	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	rachitisme hypophosphatémique autosomique récessif	true	Inferred relationship	Some
Autosomal recessive hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	structure d'un rein	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic vitamin D refractory rickets	survenue (attribut)	congénital	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic vitamin D refractory rickets	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Autosomal recessive hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	Cartilaginous tissue structure	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	true	Inferred relationship	Some	1
Autosomal recessive hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1

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
1217080016	Autosomal recessive hypophosphataemic rickets	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1218568019	Autosomal recessive hypophosphatemic rickets	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
150001012	Autosomal recessive hypophosphatemic vitamin D refractory rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
150002017	Autosomal hypophosphatemic bone disease	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
509028010	Autosomal recessive hypophosphataemic vitamin D refractory rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
509029019	Autosomal hypophosphataemic bone disease	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
833624016	Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core