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

SNOMED CT Concept\Clinical finding\...

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

\Musculoskeletal finding\Bone finding\Disorder of bone\Lesion of bone\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Joint finding\Arthropathy\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Joint finding\Arthropathy\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\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Arthropathy associated with another disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital 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\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 of bone development\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\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\Congenital 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\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of joint region\Arthropathy\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\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\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\Congenital 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\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 of bone development\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\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\Congenital 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\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Congenital disease\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\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\Congenital 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

136398017 Familial x-linked hypophosphatemic vitamin D refractory rickets en Synonym Active Only initial character case insensitive SNOMED CT core module

136399013 Familial hypophosphatemia en Synonym Active Entire term case insensitive SNOMED CT core module

136400018 Familial hypophosphatemic rickets en Synonym Active Entire term case insensitive SNOMED CT core module

136401019 Familial hypophosphatemic osteomalacia en Synonym Active Entire term case insensitive SNOMED CT core module

136402014 Vitamin D-resistant rickets en Synonym Active Only initial character case insensitive SNOMED CT core module

136403016 Vitamin D-resistant osteomalacia en Synonym Active Only initial character case insensitive SNOMED CT core module

136406012 Hereditary hypophosphatemia en Synonym Active Entire term case insensitive SNOMED CT core module

504960019 X-linked vitamin D-resistant rickets en Synonym Active Entire term case sensitive SNOMED CT core module

504961015 Familial vitamin D-resistant rickets en Synonym Active Only initial character case insensitive SNOMED CT core module

504962010 Familial hypophosphatemic bone disease en Synonym Active Entire term case insensitive SNOMED CT core module

504963017 HPDR I - Hypophosphatemic vitamin D-resistant rickets en Synonym Active Entire term case sensitive SNOMED CT core module

504964011 X-linked hypophosphatemic osteomalacia en Synonym Active Entire term case sensitive SNOMED CT core module

504965012 X-linked hypophosphatemic rickets en Synonym Active Entire term case sensitive SNOMED CT core module

504967016 Familial hypophosphataemic osteomalacia en Synonym Active Entire term case insensitive SNOMED CT core module

504968014 Hereditary hypophosphataemia en Synonym Active Entire term case insensitive SNOMED CT core module

504970017 X-linked hypophosphataemic osteomalacia en Synonym Active Entire term case sensitive SNOMED CT core module

504971018 X-linked hypophosphataemic rickets en Synonym Active Entire term case sensitive SNOMED CT core module

504972013 HPDR I - Hypophosphataemic vitamin D-resistant rickets en Synonym Active Entire term case sensitive SNOMED CT core module

504973015 Familial hypophosphataemic bone disease en Synonym Active Entire term case insensitive SNOMED CT core module

504974014 Familial hypophosphataemia en Synonym Active Entire term case insensitive SNOMED CT core module

504975010 Familial hypophosphataemic rickets en Synonym Active Entire term case insensitive SNOMED CT core module

504976011 Familial x-linked hypophosphataemic vitamin D refractory rickets en Synonym Active Only initial character case insensitive SNOMED CT core module

823616015 Familial x-linked hypophosphatemic vitamin D refractory rickets (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
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Rickets	true	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Congenital anomaly of cartilage	false	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Hypophosphatemia	true	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Congenital anomaly of trunk	false	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Specific renal tubule transport defect	false	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Dysplasia with defective mineralization	true	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Structure of osteoid tissue	false	Inferred relationship	Existential restriction modifier	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Structure of osteoid tissue	true	Inferred relationship	Existential restriction modifier	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Due to	Specific renal tubule transport defect	true	Inferred relationship	Existential restriction modifier	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	3
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	Impaired mineralization	true	Inferred relationship	Existential restriction modifier	3
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Lesion of bone	true	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	Arthropathy associated with another disorder	true	Inferred relationship	Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	Structure of epiphyseal plate	true	Inferred relationship	Existential restriction modifier	5
Familial x-linked hypophosphatemic vitamin D refractory rickets	Interprets	Physiologic mineralization of bone, function	true	Inferred relationship	Existential restriction modifier	4
Familial x-linked hypophosphatemic vitamin D refractory rickets	Has interpretation	Deficient	true	Inferred relationship	Existential restriction modifier	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	Existential restriction modifier
Autosomal dominant hypophosphatemic bone disease	Is a	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Existential restriction modifier
Autosomal recessive hypophosphatemic bone disease	Is a	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Existential restriction modifier
Vitamin D-dependent rickets	Is a	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Existential restriction modifier
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Is a	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Existential restriction modifier
Hypophosphatemic rickets with nephrotic-glycosuric dwarfism	Is a	True	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

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