763886009: Spondyloperipheral dysplasia with short ulna syndrome (disorder)

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

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3645137014	Spondyloperipheral dysplasia with short ulna syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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