237889002: Autosomal dominant hypophosphatemic rickets (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation fonctionnelle\rachitisme\rachitisme hypophosphatémique autosomique dominant

\Musculoskeletal finding\constatation à propos de l'os\Lesion of bone\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\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\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\rachitisme hypophosphatémique autosomique dominant
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique dominant
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthropathy associated with another disorder\rachitisme hypophosphatémique autosomique dominant
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique dominant
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy associated with another disorder\rachitisme hypophosphatémique autosomique dominant
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\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\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\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\rachitisme hypophosphatémique autosomique dominant
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant

\Disease\Disorder of joint region\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique dominant
\Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy associated with another disorder\rachitisme hypophosphatémique autosomique dominant
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\rachitisme\rachitisme hypophosphatémique autosomique dominant
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy associated with another disorder\rachitisme hypophosphatémique autosomique dominant
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\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\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\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\rachitisme hypophosphatémique autosomique dominant
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\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\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\trouble métabolique\maladie métabolique de l'os\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\trouble métabolique\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\rachitisme\rachitisme hypophosphatémique autosomique dominant
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of phosphorus metabolism\hypophosphatémie\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder with defective osteoid mineralisation\rachitisme\rachitisme hypophosphatémique autosomique dominant
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\trouble du développement\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\rachitisme hypophosphatémique autosomique dominant

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
rachitisme hypophosphatémique autosomique dominant	survenue (attribut)	congénital	true	Inferred relationship	Some	1
rachitisme hypophosphatémique autosomique dominant	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
rachitisme hypophosphatémique autosomique dominant	morphologie associée (attribut)	Impaired mineralization	false	Inferred relationship	Some	3
rachitisme hypophosphatémique autosomique dominant	survenue (attribut)	congénital	false	Inferred relationship	Some	3
rachitisme hypophosphatémique autosomique dominant	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	3
rachitisme hypophosphatémique autosomique dominant	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
rachitisme hypophosphatémique autosomique dominant	morphologie associée (attribut)	Impaired mineralization	true	Inferred relationship	Some	2
rachitisme hypophosphatémique autosomique dominant	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	2
rachitisme hypophosphatémique autosomique dominant	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
rachitisme hypophosphatémique autosomique dominant	Due to	Specific renal tubule transport defect	true	Inferred relationship	Some	3
rachitisme hypophosphatémique autosomique dominant	est un(e) (attribut)	Arthropathy associated with another disorder	true	Inferred relationship	Some
rachitisme hypophosphatémique autosomique dominant	localisation d'une constatation (attribut)	Structure of epiphyseal plate (body structure)	true	Inferred relationship	Some	5
rachitisme hypophosphatémique autosomique dominant	interprète (attribut)	Physiologic mineralization of bone, function (observable entity)	true	Inferred relationship	Some	4
rachitisme hypophosphatémique autosomique dominant	a pour interprétation (attribut)	déficient	true	Inferred relationship	Some	4
rachitisme hypophosphatémique autosomique dominant	est un(e) (attribut)	Autosomal dominant hypophosphataemic bone disease	true	Inferred relationship	Some
rachitisme hypophosphatémique autosomique dominant	est un(e) (attribut)	Congenital anomaly of cartilage	false	Inferred relationship	Some
rachitisme hypophosphatémique autosomique dominant	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
rachitisme hypophosphatémique autosomique dominant	est un(e) (attribut)	rachitisme	true	Inferred relationship	Some
rachitisme hypophosphatémique autosomique dominant	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
rachitisme hypophosphatémique autosomique dominant	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	false	Inferred relationship	Some	1
rachitisme hypophosphatémique autosomique dominant	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
rachitisme hypophosphatémique autosomique dominant	Due to	Specific renal tubule transport defect	false	Inferred relationship	Some	2
rachitisme hypophosphatémique autosomique dominant	survenue (attribut)	congénital	true	Inferred relationship	Some	2
rachitisme hypophosphatémique autosomique dominant	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
rachitisme hypophosphatémique autosomique dominant	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	false	Inferred relationship	Some	2
rachitisme hypophosphatémique autosomique dominant	localisation d'une constatation (attribut)	Cartilaginous tissue structure	false	Inferred relationship	Some
rachitisme hypophosphatémique autosomique dominant	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	true	Inferred relationship	Some	1
rachitisme hypophosphatémique autosomique dominant	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
rachitisme hypophosphatémique autosomique dominant	localisation d'une constatation (attribut)	structure d'un rein	false	Inferred relationship	Some
rachitisme hypophosphatémique autosomique dominant	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
rachitisme hypophosphatémique autosomique dominant	survenue (attribut)	congénital	false	Inferred relationship	Some
rachitisme hypophosphatémique autosomique dominant	est un(e) (attribut)	Familial x-linked hypophosphatemic vitamin D refractory rickets	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
1020991000172111	rachitisme hypophosphatémique autosomique dominant	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
356513017	Autosomal dominant hypophosphatemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356514011	Autosomal dominant hypophosphataemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
549331000241110	rachitisme hypophosphatémique autosomique dominant (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
626683012	Autosomal dominant hypophosphatemic rickets (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
955321000172112	ADHR - autosomal dominant hypophosphatemic rickets	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)