237888005: Hypophosphatemic rickets with nephrotic-glycosuric dwarfism (disorder)

SNOMED CT Concept\Clinical finding\...

\Functional finding\Rickets\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism

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

\Disease\Disorder of joint region\Arthropathy\Rickets\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Disorder of joint region\Arthropathy\Arthropathy associated with another disorder\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Rickets\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralisation\Rickets\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralisation\Rickets\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Developmental disorder\Developmental hereditary disorder\Familial x-linked hypophosphataemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism

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

Descriptions:

Id Description Lang Type Status Case? Module

356511015 Hypophosphataemic rickets with nephrotic-glycosuric dwarfism en Synonym Active Case insensitive SNOMED CT core

356512010 Hypophosphatemic rickets with nephrotic-glycosuric dwarfism en Synonym Active Case insensitive SNOMED CT core

626682019 Hypophosphatemic rickets with nephrotic-glycosuric dwarfism (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Pathological process	Pathological developmental process	false	Inferred relationship	Some	1
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Finding site	Osteoid tissue	true	Inferred relationship	Some	2
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Finding site	Bone structure	true	Inferred relationship	Some	3
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Associated morphology	Impaired mineralisation	true	Inferred relationship	Some	3
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Occurrence	Congenital	true	Inferred relationship	Some	3
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Finding site	Structure of epiphyseal plate	true	Inferred relationship	Some	4
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Interprets	Physiologic mineralisation of bone	true	Inferred relationship	Some	5
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Has interpretation	Deficient	true	Inferred relationship	Some	5
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Finding site	Osteoid tissue	false	Inferred relationship	Some	1
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Is a	Familial x-linked hypophosphataemic vitamin D refractory rickets	true	Inferred relationship	Some
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Due to	Specific renal tubule transport defect	true	Inferred relationship	Some	1
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Occurrence	Congenital	true	Inferred relationship	Some	2
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Finding site	Bone structure	false	Inferred relationship	Some	2
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Occurrence	Congenital	false	Inferred relationship	Some
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Finding site	Kidney structure	false	Inferred relationship	Some
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Finding site	Osteoid tissue	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
356511015	Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	en	Synonym	Active	Case insensitive	SNOMED CT core
356512010	Hypophosphatemic rickets with nephrotic-glycosuric dwarfism	en	Synonym	Active	Case insensitive	SNOMED CT core
626682019	Hypophosphatemic rickets with nephrotic-glycosuric dwarfism (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core