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

SNOMED CT Concept\constatation clinique\...

\constatation fonctionnelle\rachitisme\Familial x-linked hypophosphatemic vitamin D refractory rickets

\Musculoskeletal finding\constatation à propos de l'os\Lesion of bone\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\constatation à propos de l'os\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\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\rachitisme\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\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\rachitisme\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy associated with another disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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)\rachitisme\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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\rachitisme\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy associated with another disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\trouble métabolique\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of phosphorus metabolism\hypophosphatémie\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder with defective osteoid mineralisation\rachitisme\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\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\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\trouble du développement\Developmental hereditary disorder\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Familial x-linked hypophosphatemic vitamin D refractory rickets
\Disease\trouble du développement\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	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	survenue (attribut)	congénital	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	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	3
Familial x-linked hypophosphatemic vitamin D refractory rickets	morphologie associée (attribut)	Impaired mineralization	true	Inferred relationship	Some	3
Familial x-linked hypophosphatemic vitamin D refractory rickets	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Familial x-linked hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	X-linked hereditary disease	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	Lesion of bone	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	Arthropathy associated with another disorder	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	Structure of epiphyseal plate (body structure)	true	Inferred relationship	Some	5
Familial x-linked hypophosphatemic vitamin D refractory rickets	interprète (attribut)	Physiologic mineralization of bone, function (observable entity)	true	Inferred relationship	Some	4
Familial x-linked hypophosphatemic vitamin D refractory rickets	a pour interprétation (attribut)	déficient	true	Inferred relationship	Some	4
Familial x-linked hypophosphatemic vitamin D refractory rickets	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	rachitisme	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	Congenital anomaly of cartilage	false	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	hypophosphatémie	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	Congenital anomaly of trunk	false	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	Specific renal tubule transport defect	false	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	Dysplasia with defective mineralization	true	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	true	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	morphologie associée (attribut)	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	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	Cartilaginous tissue structure	false	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	false	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	survenue (attribut)	congénital	false	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	localisation d'une constatation (attribut)	structure d'un rein	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Vitamin D-dependent rickets	est un(e) (attribut)	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Some
Autosomal recessive hypophosphatemic vitamin D refractory rickets	est un(e) (attribut)	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Some
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	est un(e) (attribut)	True	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Some
rachitisme hypophosphatémique autosomique dominant	est un(e) (attribut)	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	False	Familial x-linked hypophosphatemic vitamin D refractory rickets	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	est un(e) (attribut)	False	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