719162001: syndrome de synostose radio-ulnaire-microcéphalie-scoliose (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\déformation de la colonne vertébrale\Curvature of spine\déformation scoliotique de la colonne vertébrale\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\déformation de la colonne vertébrale\Curvature of spine\déformation scoliotique de la colonne vertébrale\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \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 abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \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 radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of bone of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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)\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Radioulnar synostosis with microcephaly and scoliosis 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\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Finding of bone of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Finding of bone of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Finding of bone of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\déformation scoliotique de la colonne vertébrale\Radioulnar synostosis with microcephaly and scoliosis 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\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\Genetic disease\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\déformation scoliotique de la colonne vertébrale\Radioulnar synostosis with microcephaly and scoliosis 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\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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 radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis 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\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315216014	Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315217017	Radioulnar synostosis with microcephaly and scoliosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315218010	Giuffre Tsukahara syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315219019	Tsukahara syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
753641000241111	syndrome de synostose radio-ulnaire-microcéphalie-scoliose (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
895101000172115	syndrome de synostose radio-ulnaire-microcéphalie-scoliose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
950681000172114	syndrome de Giuffré-Tsukahara	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3315220013	An extremely rare syndrome with characteristics of the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.	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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