702339001: Spondyloperipheral dysplasia (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Spondyloperipheral dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondyloperipheral dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloperipheral dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Spondyloperipheral dysplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloperipheral dysplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondyloperipheral dysplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Spondyloperipheral dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondyloperipheral dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloperipheral dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloperipheral dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondyloperipheral dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995225017 Spondyloperipheral dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995845016 Spondyloperipheral dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7567941000241119 dysplasie spondylopériphérique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloperipheral dysplasia (disorder)	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
Spondyloperipheral dysplasia (disorder)	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Spondyloperipheral dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloperipheral dysplasia (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Spondyloperipheral dysplasia (disorder)	Is a	Congenital skeletal dysplasia (disorder)	true	Inferred relationship	Some
Spondyloperipheral dysplasia (disorder)	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
Spondyloperipheral dysplasia (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondyloperipheral dysplasia (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondyloperipheral dysplasia (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloperipheral dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloperipheral dysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloperipheral dysplasia (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Spondyloperipheral dysplasia (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.	Is a	True	Spondyloperipheral dysplasia (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2995225017	Spondyloperipheral dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995845016	Spondyloperipheral dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7567941000241119	dysplasie spondylopériphérique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module