722456001: Intellectual disability, developmental delay, contracture syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\anomalie morphologique congénitale\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \constatation à propos du mouvement\constatation à propos du mouvement de l'articulation\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \constatation à propos du mouvement\constatation à propos du mouvement de l'articulation\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\...
• \Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\...
• \Degenerative disorder of muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \affection d'un muscle squelettique\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \affection dégénérative du système musculosquelettique\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \affection d'un muscle squelettique\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\affection dégénérative\Degenerative disorder of muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\affection musculaire\Degenerative disorder of muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture 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
3332212014	Intellectual disability, developmental delay, contracture syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332213016	Intellectual disability, developmental delay, contracture syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332214010	Foot contracture, muscle atrophy, oculomotor apraxia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332215011	Wieacker Wolff syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332216012	A severe X-linked recessive neurodevelopmental disorder with the association of arthrogryposis multiplex congenita and intellectual disability. The syndrome has been reported in 5 families to date, with fewer than 30 affected individuals described. Affected patients are male, while carrier females are often asymptomatic. Facial weakness (ptosis) and bulbar weakness (feeding difficulty), characteristic dysmorphic facial and skeletal abnormalities have been reported. Other neurological signs may include spasticity and seizures. Heterozygous female carriers may also be affected, but to a lesser degree (intellectual disability, distal muscle weakness, camptodactyly, joint contractures, and pes equinovarus). Caused by mutations in the ZC4H2 gene (Xq11.1) that is presumed to play a role in neuronal function during fetal growth.	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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