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

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

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthropathy associated with another disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism

\Disease\Disorder of joint region\Arthropathy (disorder)\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy associated with another disorder\Familial x-linked hypophosphatemic 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 hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial x-linked hypophosphatemic 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 hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Disorder of foetus and/or newborn\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Familial x-linked hypophosphatemic 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\Disorder of phosphorus metabolism\Hypophosphatemia\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralization\Rickets\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Developmental disorder\Developmental hereditary disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism
\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\Hypophosphataemic rickets with nephrotic-glycosuric dwarfism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356512010 Hypophosphatemic rickets with nephrotic-glycosuric dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626682019 Hypophosphatemic rickets with nephrotic-glycosuric dwarfism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Is a	Familial x-linked hypophosphatemic vitamin D refractory rickets	true	Inferred relationship	Some
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
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	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	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Pathological process (attribute)	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 (attribute)	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 mineralization	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 (body structure)	true	Inferred relationship	Some	4
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Interprets	Physiologic mineralization of bone	true	Inferred relationship	Some	5
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Has interpretation	Deficient	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356511015	Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356512010	Hypophosphatemic rickets with nephrotic-glycosuric dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626682019	Hypophosphatemic rickets with nephrotic-glycosuric dwarfism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core