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

SNOMED CT Concept\Clinical finding (finding)\...

\Functional finding\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Disorder with defective osteoid mineralization\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)
\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Disorder with defective osteoid mineralization\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)

\Disease\Disorder of joint region\Arthropathy\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Vitamin D-dependent rickets, type 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Disorder with defective osteoid mineralization\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)
\Disease\Metabolic disease\Metabolic bone disease (disorder)\Disorder with defective osteoid mineralization\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralization\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2 (disorder)

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 (disorder)	Is a	Vitamin D-dependent rickets	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets, type 2 (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Vitamin D-dependent rickets, type 2 (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Vitamin D-dependent rickets, type 2 (disorder)	Finding site	Osteoid tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Vitamin D-dependent rickets, type 2 (disorder)	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets, type 2 (disorder)	Associated morphology	Bowing deformity (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Vitamin D-dependent rickets, type 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Vitamin D-dependent rickets, type 2 (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Vitamin D-dependent rickets, type 2 (disorder)	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets, type 2 (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Vitamin D-dependent rickets, type 2 (disorder)	Is a	Skeletal dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets, type 2 (disorder)	Is a	déformation d'un os	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets, type 2 (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Vitamin D-dependent rickets, type 2 (disorder)	Associated morphology	Bowing deformity (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Vitamin D-dependent rickets, type 2 (disorder)	Finding site	Osteoid tissue	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Vitamin D-dependent rickets, type 2 (disorder)	Is a	Congenital connective tissue disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets, type 2 (disorder)	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets, type 2 (disorder)	Finding site	Structure of epiphyseal plate (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Vitamin D-dependent rickets, type 2 (disorder)	Interprets	Physiologic mineralization of bone, function (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Vitamin D-dependent rickets, type 2 (disorder)	Has interpretation	Deficient	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Vitamin D-dependent rickets type II with alopecia	Is a	True	Vitamin D-dependent rickets, type 2 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets type II without alopecia	Is a	True	Vitamin D-dependent rickets, type 2 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

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
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
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 sensitive (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
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	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
3381751001000112	Rachitis, hypokalzämische, Vitamin D-resistente	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
3381751001000112	Rachitis, hypokalzämische, Vitamin D-resistente	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module