763886009: syndrome de dysplasie spondylo-périphérique-cubitus court (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (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)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\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)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\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)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of bone of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (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)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Finding of bone of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (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\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\affection d'une extrémité\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\affection d'une extrémité\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\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\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\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\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\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\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloperipheral dysplasia (disorder)\Spondyloperipheral dysplasia with short ulna syndrome (disorder)
• \Disease\trouble du développement\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\trouble du développement\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\trouble du développement\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
766731000241110	syndrome de dysplasie spondylo-périphérique-cubitus court (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
917591000172118	syndrome de dysplasie spondylo-périphérique-cubitus court	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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