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720753002: cranio-ostéo-arthropathie (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3322004019 Cranioosteoarthropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322005018 Cranioosteoarthropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322006017 Cranio-osteoarthropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322007014 Currarino disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322008016 Currarino idiopathic osteoarthropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322009012 Reginato Schiapachasse syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
756051000241110 cranio-ostéo-arthropathie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
905941000172111 cranio-ostéo-arthropathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
911991000172117 maladie de Currarino fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3322010019 A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cranioosteoarthropathy (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Cranioosteoarthropathy (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Cranioosteoarthropathy (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) true Inferred relationship Some 1
Cranioosteoarthropathy (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cranioosteoarthropathy (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Cranioosteoarthropathy (disorder) interprète (attribut) ostéodensitométrie true Inferred relationship Some 2
Cranioosteoarthropathy (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 2
Cranioosteoarthropathy (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Cranioosteoarthropathy (disorder) est un(e) (attribut) anomalie congénitale du crâne (trouble) true Inferred relationship Some
Cranioosteoarthropathy (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Cranioosteoarthropathy (disorder) est un(e) (attribut) Dysplasia with increased bone density true Inferred relationship Some
Cranioosteoarthropathy (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Cranioosteoarthropathy (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Cranioosteoarthropathy (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Cranioosteoarthropathy (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Cranioosteoarthropathy (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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