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

SNOMED CT Concept\Clinical finding\...

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

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

\Disease\Disorder of joint region\Arthropathy\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Vitamin D-dependent rickets\Vitamin D-dependent rickets, type 2
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralization\Rickets\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

120973014 Vitamin D-dependent rickets, type 2 en Synonym Active Only initial character case insensitive SNOMED CT core module
120974015 Calcitriol receptor defect en Synonym Active Entire term case insensitive SNOMED CT core module
502250015 Type 2 vitamin D-dependent rickets en Synonym Active Entire term case sensitive SNOMED CT core module
502251016 Vitamin D-dependent rickets type II en Synonym Active Only initial character case insensitive SNOMED CT core module
502252011 End organ unresponsiveness to 1,25-dihydroxycholecalciferol en Synonym Active Entire term case insensitive SNOMED CT core module
813152016 Vitamin D-dependent rickets, type 2 (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Vitamin D-dependent rickets, type 2	Is a	Vitamin D-dependent rickets	true	Inferred relationship	Existential restriction modifier
Vitamin D-dependent rickets, type 2	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Vitamin D-dependent rickets, type 2	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Vitamin D-dependent rickets, type 2	Finding site	Structure of osteoid tissue	false	Inferred relationship	Existential restriction modifier	2
Vitamin D-dependent rickets, type 2	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Existential restriction modifier
Vitamin D-dependent rickets, type 2	Associated morphology	Bowing deformity	false	Inferred relationship	Existential restriction modifier	2
Vitamin D-dependent rickets, type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Vitamin D-dependent rickets, type 2	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Vitamin D-dependent rickets, type 2	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier
Vitamin D-dependent rickets, type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Vitamin D-dependent rickets, type 2	Is a	Congenital skeletal dysplasia	false	Inferred relationship	Existential restriction modifier
Vitamin D-dependent rickets, type 2	Is a	Deformity of bone	false	Inferred relationship	Existential restriction modifier
Vitamin D-dependent rickets, type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Vitamin D-dependent rickets, type 2	Associated morphology	Bowing deformity	false	Inferred relationship	Existential restriction modifier	2
Vitamin D-dependent rickets, type 2	Finding site	Structure of osteoid tissue	true	Inferred relationship	Existential restriction modifier	2
Vitamin D-dependent rickets, type 2	Is a	Congenital connective tissue disorder	false	Inferred relationship	Existential restriction modifier
Vitamin D-dependent rickets, type 2	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier
Vitamin D-dependent rickets, type 2	Finding site	Structure of epiphyseal plate	true	Inferred relationship	Existential restriction modifier	4
Vitamin D-dependent rickets, type 2	Interprets	Physiologic mineralization of bone, function	true	Inferred relationship	Existential restriction modifier	3
Vitamin D-dependent rickets, type 2	Has interpretation	Deficient	true	Inferred relationship	Existential restriction modifier	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	Inferred relationship	Existential restriction modifier
Vitamin D-dependent rickets type II without alopecia	Is a	True	Vitamin D-dependent rickets, type 2	Inferred relationship	Existential restriction modifier

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	Active	Only initial character case insensitive	SNOMED CT core module
120974015	Calcitriol receptor defect	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
502250015	Type 2 vitamin D-dependent rickets	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
502251016	Vitamin D-dependent rickets type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
502252011	End organ unresponsiveness to 1,25-dihydroxycholecalciferol	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
813152016	Vitamin D-dependent rickets, type 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module