720753002: Cranioosteoarthropathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)

\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cranioosteoarthropathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cranioosteoarthropathy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cranioosteoarthropathy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cranioosteoarthropathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cranioosteoarthropathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cranioosteoarthropathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Cranioosteoarthropathy (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Cranioosteoarthropathy (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Cranioosteoarthropathy (disorder)

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

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

3918771000052112 kranioosteoartropati sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
3918771000052112	kranioosteoartropati	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)