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

SNOMED CT Concept\Clinical finding\...

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

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

\Disease\Disorder of joint region\Arthropathy\Rickets\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Disorder of joint region\Arthropathy\Arthropathy associated with another disorder\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Rickets\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthropathy associated with another disorder\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Lesion of bone\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Rickets\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralisation\Rickets\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Phosphorus metabolism disorder\Hypophosphataemia\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralisation\Rickets\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Developmental disorder\Developmental hereditary disorder\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Familial x-linked hypophosphataemic vitamin D refractory rickets
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Familial x-linked hypophosphataemic vitamin D refractory rickets

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

136399013 Familial hypophosphatemia en Synonym Active Case insensitive SNOMED CT core

136400018 Familial hypophosphatemic rickets en Synonym Active Case insensitive SNOMED CT core

136401019 Familial hypophosphatemic osteomalacia en Synonym Active Case insensitive SNOMED CT core

136402014 Vitamin D-resistant rickets en Synonym Active Initial character case insensitive SNOMED CT core

136403016 Vitamin D-resistant osteomalacia en Synonym Active Initial character case insensitive SNOMED CT core

136406012 Hereditary hypophosphatemia en Synonym Active Case insensitive SNOMED CT core

504960019 X-linked vitamin D-resistant rickets en Synonym Active Case sensitive SNOMED CT core

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

504962010 Familial hypophosphatemic bone disease en Synonym Active Case insensitive SNOMED CT core

504963017 HPDR I - Hypophosphatemic vitamin D-resistant rickets en Synonym Active Case sensitive SNOMED CT core

504964011 X-linked hypophosphatemic osteomalacia en Synonym Active Case sensitive SNOMED CT core

504965012 X-linked hypophosphatemic rickets en Synonym Active Case sensitive SNOMED CT core

504967016 Familial hypophosphataemic osteomalacia en Synonym Active Case insensitive SNOMED CT core

504968014 Hereditary hypophosphataemia en Synonym Active Case insensitive SNOMED CT core

504970017 X-linked hypophosphataemic osteomalacia en Synonym Active Case sensitive SNOMED CT core

504971018 X-linked hypophosphataemic rickets en Synonym Active Case sensitive SNOMED CT core

504972013 HPDR I - Hypophosphataemic vitamin D-resistant rickets en Synonym Active Case sensitive SNOMED CT core

504973015 Familial hypophosphataemic bone disease en Synonym Active Case insensitive SNOMED CT core

504974014 Familial hypophosphataemia en Synonym Active Case insensitive SNOMED CT core

504975010 Familial hypophosphataemic rickets en Synonym Active Case insensitive SNOMED CT core

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

823616015 Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial x-linked hypophosphataemic vitamin D refractory rickets	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Familial x-linked hypophosphataemic vitamin D refractory rickets	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Familial x-linked hypophosphataemic vitamin D refractory rickets	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial x-linked hypophosphataemic vitamin D refractory rickets	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Familial x-linked hypophosphataemic vitamin D refractory rickets	Finding site	Bone structure	true	Inferred relationship	Some	3
Familial x-linked hypophosphataemic vitamin D refractory rickets	Associated morphology	Impaired mineralisation	true	Inferred relationship	Some	3
Familial x-linked hypophosphataemic vitamin D refractory rickets	Occurrence	Congenital	true	Inferred relationship	Some	3
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	Lesion of bone	true	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	Arthropathy associated with another disorder	true	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Finding site	Structure of epiphyseal plate	true	Inferred relationship	Some	5
Familial x-linked hypophosphataemic vitamin D refractory rickets	Interprets	Physiologic mineralisation of bone	true	Inferred relationship	Some	4
Familial x-linked hypophosphataemic vitamin D refractory rickets	Has interpretation	Deficient	true	Inferred relationship	Some	4
Familial x-linked hypophosphataemic vitamin D refractory rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	Rickets	true	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	Congenital anomaly of cartilage	false	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	Hypophosphataemia	true	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	Specific renal tubule transport defect	false	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	Dysplasia with defective mineralisation	true	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Finding site	Osteoid tissue	true	Inferred relationship	Some	1
Familial x-linked hypophosphataemic vitamin D refractory rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Familial x-linked hypophosphataemic vitamin D refractory rickets	Due to	Specific renal tubule transport defect	true	Inferred relationship	Some	2
Familial x-linked hypophosphataemic vitamin D refractory rickets	Occurrence	Congenital	false	Inferred relationship	Some	2
Familial x-linked hypophosphataemic vitamin D refractory rickets	Finding site	Bone structure	false	Inferred relationship	Some	2
Familial x-linked hypophosphataemic vitamin D refractory rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Familial x-linked hypophosphataemic vitamin D refractory rickets	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Familial x-linked hypophosphataemic vitamin D refractory rickets	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Finding site	Osteoid tissue	false	Inferred relationship	Some	1
Familial x-linked hypophosphataemic vitamin D refractory rickets	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Familial x-linked hypophosphataemic vitamin D refractory rickets	Occurrence	Congenital	false	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Finding site	Kidney structure	false	Inferred relationship	Some

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

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