720602007: camptodactylie de Guadalajara type 1 (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\déformation d'une main\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\déformation d'une main\déformation en flexion de la main\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Deformity (finding)\Deformity of limb (finding)\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\déformation d'un membre supérieur\déformation d'une main\déformation en flexion de la main\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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 anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (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 deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (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 hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (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 hand (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (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 hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (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 hand (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\déformation d'un membre supérieur\déformation d'une main\déformation en flexion de la main\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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 anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (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 deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (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 hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (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 hand (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\Finding of finger\Disorder of finger\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\déformation d'une main\déformation en flexion de la main\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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 anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Musculoskeletal finding\constatation à propos de la structure musculosquelettique d'un doigt de la main\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (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\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \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)\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly syndrome Guadalajara type 1 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Camptodactyly syndrome Guadalajara type 1 (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
3321500017	Camptodactyly syndrome Guadalajara type 1 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321501018	Camptodactyly syndrome Guadalajara type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
755721000241114	camptodactylie de Guadalajara type 1 (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
922511000172118	camptodactylie de Guadalajara type 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3321506011	A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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