72831007: Vitamin D-dependent rickets, type 2 (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation fonctionnelle\rachitisme\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\rachitisme\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\rachitisme\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\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\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2

\Disease\Disorder of joint region\Arthropathy (disorder)\rachitisme\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\rachitisme\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\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\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\trouble métabolique\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder with defective osteoid mineralisation\rachitisme\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\Congenital disease\Vitamin D-dependent rickets, type 2

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
Vitamin D-dependent rickets, type 2	localisation d'une constatation (attribut)	Structure of epiphyseal plate (body structure)	true	Inferred relationship	Some	4
Vitamin D-dependent rickets, type 2	interprète (attribut)	Physiologic mineralization of bone, function (observable entity)	true	Inferred relationship	Some	3
Vitamin D-dependent rickets, type 2	a pour interprétation (attribut)	déficient	true	Inferred relationship	Some	3
Vitamin D-dependent rickets, type 2	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Vitamin D-dependent rickets, type 2	est un(e) (attribut)	Skeletal dysplasia	false	Inferred relationship	Some
Vitamin D-dependent rickets, type 2	est un(e) (attribut)	déformation d'un os	false	Inferred relationship	Some
Vitamin D-dependent rickets, type 2	est un(e) (attribut)	Vitamin D-dependent rickets	true	Inferred relationship	Some
Vitamin D-dependent rickets, type 2	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Vitamin D-dependent rickets, type 2	morphologie associée (attribut)	Bowing deformity	false	Inferred relationship	Some	2
Vitamin D-dependent rickets, type 2	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	true	Inferred relationship	Some	2
Vitamin D-dependent rickets, type 2	est un(e) (attribut)	affection congénitale du tissu conjonctif	false	Inferred relationship	Some
Vitamin D-dependent rickets, type 2	est un(e) (attribut)	Congenital disease	true	Inferred relationship	Some
Vitamin D-dependent rickets, type 2	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Vitamin D-dependent rickets, type 2	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Vitamin D-dependent rickets, type 2	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	false	Inferred relationship	Some	2
Vitamin D-dependent rickets, type 2	localisation d'une constatation (attribut)	Cartilaginous tissue structure	false	Inferred relationship	Some
Vitamin D-dependent rickets, type 2	morphologie associée (attribut)	Bowing deformity	false	Inferred relationship	Some	2
Vitamin D-dependent rickets, type 2	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Vitamin D-dependent rickets, type 2	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Vitamin D-dependent rickets, type 2	localisation d'une constatation (attribut)	structure d'un rein	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Vitamin D-dependent rickets type II with alopecia	est un(e) (attribut)	True	Vitamin D-dependent rickets, type 2	Inferred relationship	Some
Vitamin D-dependent rickets type II without alopecia	est un(e) (attribut)	True	Vitamin D-dependent rickets, type 2	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
120973014	Vitamin D-dependent rickets, type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
120974015	Calcitriol receptor defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
174741000077113	rachitisme dépendant de la vitamine D, de type 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
449941000077111	rachitisme dépendant de la vitamine D, de type 2 (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
502250015	Type 2 vitamin D-dependent rickets	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502251016	Vitamin D-dependent rickets type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
502252011	End organ unresponsiveness to 1,25-dihydroxycholecalciferol	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
813152016	Vitamin D-dependent rickets, type 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core