1187277001: Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\déformation d'une main\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\déformation d'un membre supérieur\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\déformation d'un membre supérieur\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\déformation d'un membre supérieur\déformation d'une main\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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 hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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 hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of bone of upper limb\Finding of bone in hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\déformation d'un membre supérieur\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\déformation d'un membre supérieur\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\déformation d'un membre supérieur\déformation d'une main\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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 deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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 deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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 hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\constatation à propos de la structure musculosquelettique d'un doigt de la main\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of bone in hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\déformation d'une main\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\constatation à propos de la structure musculosquelettique d'un doigt de la main\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Finding of bone of upper limb\Finding of bone in hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\retard de développement\Global developmental delay\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Short stature, brachydactyly, obesity, global developmental delay syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4673075011	Short stature, brachydactyly, obesity, global developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673076012	Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673077015	SBIDDS - short stature, brachydactyly, impaired intellectual development, seizures	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673078013	A rare genetic multiple congenital anomalies syndrome with characteristics of short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability and more variably; seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion and short neck. The malformation is due to a loss of function in the enzyme protein arginine N-methyltransferase 7 (encoded by PRMT7, 16q22.1) resulting in decreased levels of protein arginine methylation. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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