766821006: syndrome de dysplasie spondylo-épimétaphysaire-membres courts-anomalies de calcification (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\constatation à propos d'un cartilage\affection du cartilage (trouble)\Degenerative disorder of cartilage\chondrocalcinose\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\constatation à propos d'un cartilage\affection du cartilage (trouble)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\constatation à propos d'un cartilage\affection du cartilage (trouble)\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of cartilage\chondrocalcinose\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Degenerative disorder of cartilage\chondrocalcinose\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification 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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Degenerative disorder of cartilage\chondrocalcinose\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Degenerative disorder of cartilage\chondrocalcinose\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection dégénérative\Calcinosis\chondrocalcinose\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of cartilage\chondrocalcinose\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Degenerative disorder of cartilage\chondrocalcinose\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification 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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Degenerative disorder of cartilage\chondrocalcinose\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Degenerative disorder of cartilage\chondrocalcinose\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Congenital disease\affection congénitale du tissu conjonctif\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification 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
3662741015	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662742010	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
768491000241118	syndrome de dysplasie spondylo-épimétaphysaire-membres courts-anomalies de calcification (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
958131000172118	syndrome de dysplasie spondylo-épimétaphysaire-membres courts-anomalies de calcification	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3662743017	A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may be lethal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start