763886009: Spondyloperipheral dysplasia with short ulna syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3645136017	Spondyloperipheral dysplasia with short ulna syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645137014	Spondyloperipheral dysplasia with short ulna syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404260013	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404261012	Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterised 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 sacralisation of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3645136017	Spondyloperipheral dysplasia with short ulna syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645137014	Spondyloperipheral dysplasia with short ulna syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645138016	A rare genetic primary bone dysplasia with highly variable phenotype typically characterised 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 sacralisation of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3645139012	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404260013	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404261012	Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterised 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 sacralisation of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3419721001000111	Spondyloperiphere Dysplasie mit kurzer Ulna	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
917591000172118	syndrome de dysplasie spondylo-périphérique-cubitus court	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
917591000172118	syndrome de dysplasie spondylo-périphérique-cubitus court	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419721001000111	Spondyloperiphere Dysplasie mit kurzer Ulna	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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