237891005: Autosomal recessive hypophosphatemic bone disease (disorder)

SNOMED CT Concept\constatation clinique\...

\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
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease
\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

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hypophosphatemic bone disease
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease
\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
\Disease\trouble métabolique\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphatemic bone disease
\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
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphatemic bone disease

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

Descriptions:

Id Description Lang Type Status Case? Module

356518014 Autosomal recessive hypophosphatemic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356521011 Autosomal recessive hypophosphataemic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626685017 Autosomal recessive hypophosphatemic bone disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hypophosphatemic bone disease	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	est un(e) (attribut)	Disorder with defective osteoid mineralisation	true	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	est un(e) (attribut)	hypophosphatémie	true	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	localisation d'une constatation (attribut)	Cartilaginous tissue structure	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	true	Inferred relationship	Some	1
Autosomal recessive hypophosphatemic bone disease	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Autosomal recessive hypophosphatemic bone disease	localisation d'une constatation (attribut)	structure d'un rein	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Autosomal recessive hypophosphatemic bone disease	survenue (attribut)	congénital	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	est un(e) (attribut)	Familial x-linked hypophosphatemic vitamin D refractory rickets	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	False	Autosomal recessive hypophosphatemic bone disease	Inferred relationship	Some
rachitisme hypophosphatémique autosomique récessif	est un(e) (attribut)	True	Autosomal recessive hypophosphatemic bone disease	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356518014	Autosomal recessive hypophosphatemic bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356521011	Autosomal recessive hypophosphataemic bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626685017	Autosomal recessive hypophosphatemic bone disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core