82236004: Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder)

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

\Functional finding\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthropathy associated with another disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy associated with another disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets

\Disease\Disorder of joint region\Arthropathy (disorder)\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy associated with another disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy associated with another disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of phosphorus metabolism\Hypophosphatemia\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralization\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Developmental disorder\Developmental hereditary disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Familial x-linked 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
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Rickets	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Congenital anomaly of cartilage	false	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Hypophosphatemia	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Specific renal tubule transport defect	false	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Dysplasia with defective mineralization	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Osteoid tissue	false	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	Congenital	false	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Kidney structure	false	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Osteoid tissue	true	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Due to	Specific renal tubule transport defect	true	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	Congenital	false	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Bone structure	false	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Bone structure	true	Inferred relationship	Some	3
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	Impaired mineralization	true	Inferred relationship	Some	3
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	Congenital	true	Inferred relationship	Some	3
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Lesion of bone	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Arthropathy associated with another disorder	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Structure of epiphyseal plate (body structure)	true	Inferred relationship	Some	5
Familial x-linked hypophosphatemic vitamin D refractory rickets	Interprets	Physiologic mineralization of bone	true	Inferred relationship	Some	4
Familial x-linked hypophosphatemic vitamin D refractory rickets	Has interpretation	Deficient	true	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant hypophosphatemic rickets	Is a	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Is a	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Some
Vitamin D-dependent rickets	Is a	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Some
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Is a	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Some
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Is a	True	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
136398017	Familial x-linked hypophosphatemic vitamin D refractory rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
136399013	Familial hypophosphatemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
136400018	Familial hypophosphatemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
136401019	Familial hypophosphatemic osteomalacia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
136402014	Vitamin D-resistant rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
136403016	Vitamin D-resistant osteomalacia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
136406012	Hereditary hypophosphatemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
504960019	X-linked vitamin D-resistant rickets	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
504961015	Familial vitamin D-resistant rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
504962010	Familial hypophosphatemic bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
504963017	HPDR I - Hypophosphatemic vitamin D-resistant rickets	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
504964011	X-linked hypophosphatemic osteomalacia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
504965012	X-linked hypophosphatemic rickets	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
504967016	Familial hypophosphataemic osteomalacia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
504968014	Hereditary hypophosphataemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
504970017	X-linked hypophosphataemic osteomalacia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
504971018	X-linked hypophosphataemic rickets	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
504972013	HPDR I - Hypophosphataemic vitamin D-resistant rickets	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
504973015	Familial hypophosphataemic bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
504974014	Familial hypophosphataemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
504975010	Familial hypophosphataemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
504976011	Familial x-linked hypophosphataemic vitamin D refractory rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
823616015	Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4658491000241110	rachitisme hypophosphatémique familial lié à l'X résistant à la vitamine D	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module