720573009: Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\Genetic disease\Genetic disorder of nail (disorder)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism 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\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\trouble du développement\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Brachymorphism with onychodysplasia and dysphalangism 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
3321288010	Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321289019	Brachymorphism with onychodysplasia and dysphalangism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321290011	Senior syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321291010	BOD (brachymorphism, onychodysplasia, dysphalangism) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321292015	A very rare malformation syndrome with characteristics of short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.	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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