237890006: Autosomal dominant hypophosphatemic bone disease (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hypophosphataemic bone disease
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease
\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
\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
\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
\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
\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
\Disease\trouble métabolique\maladie métabolique de l'os\Autosomal dominant hypophosphataemic bone disease
\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
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease
\Disease\trouble du développement\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease
\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

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

Descriptions:

Id Description Lang Type Status Case? Module

356515012 Autosomal dominant hypophosphataemic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356517016 Autosomal dominant hypophosphatemic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626684018 Autosomal dominant hypophosphatemic bone disease (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
Autosomal dominant hypophosphataemic bone disease	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	morphologie associée (attribut)	Impaired mineralization	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	morphologie associée (attribut)	Impaired mineralization	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Due to	Specific renal tubule transport defect	true	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	Lesion of bone	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	hypophosphatémie	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	Specific renal tubule transport defect	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	Dysplasia with defective mineralization	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	maladie métabolique de l'os	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Due to	Specific renal tubule transport defect	false	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	false	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	survenue (attribut)	congénital	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	localisation d'une constatation (attribut)	structure d'un rein	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	localisation d'une constatation (attribut)	Structure of osteoid tissue (body structure)	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	localisation d'une constatation (attribut)	Cartilaginous tissue structure	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	Familial x-linked hypophosphatemic vitamin D refractory rickets	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	est un(e) (attribut)	True	Autosomal dominant hypophosphataemic bone disease	Inferred relationship	Some
rachitisme hypophosphatémique autosomique dominant	est un(e) (attribut)	True	Autosomal dominant hypophosphataemic bone disease	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356515012	Autosomal dominant hypophosphataemic bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356517016	Autosomal dominant hypophosphatemic bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626684018	Autosomal dominant hypophosphatemic bone disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core