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720753002: Cranioosteoarthropathy (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3322004019 Cranioosteoarthropathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3322005018 Cranioosteoarthropathy en Synonym Active Case insensitive SNOMED CT core
3322006017 Cranio-osteoarthropathy en Synonym Active Case insensitive SNOMED CT core
3322007014 Currarino disease en Synonym Active Case sensitive SNOMED CT core
3322008016 Currarino idiopathic osteoarthropathy en Synonym Active Case sensitive SNOMED CT core
3322009012 Reginato Schiapachasse syndrome en Synonym Active Case sensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cranio-osteoarthropathy Occurrence Congenital true Inferred relationship Some 1
Cranio-osteoarthropathy Associated morphology Congenital dysplasia false Inferred relationship Some 1
Cranio-osteoarthropathy Finding site Bone structure of cranium true Inferred relationship Some 1
Cranio-osteoarthropathy Pathological process Pathological developmental process true Inferred relationship Some 1
Cranio-osteoarthropathy Associated morphology Dysplasia true Inferred relationship Some 1
Cranio-osteoarthropathy Interprets Bone density scan true Inferred relationship Some 2
Cranio-osteoarthropathy Has interpretation Above reference range true Inferred relationship Some 2
Cranio-osteoarthropathy Is a Developmental hereditary disorder true Inferred relationship Some
Cranio-osteoarthropathy Is a Congenital anomaly of skull true Inferred relationship Some
Cranio-osteoarthropathy Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Cranio-osteoarthropathy Is a Dysplasia with increased bone density true Inferred relationship Some
Cranio-osteoarthropathy Is a Inherited disorder of connective tissue false Inferred relationship Some
Cranio-osteoarthropathy Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Cranio-osteoarthropathy Associated morphology Congenital dysplasia false Inferred relationship Some 2
Cranio-osteoarthropathy Occurrence Congenital false Inferred relationship Some 2
Cranio-osteoarthropathy Finding site Bone structure of cranium false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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