722122000: syndrome de croissance excessive-macrocéphalie-dysmorphie faciale (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \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\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Overgrowth, macrocephaly, facial dysmorphism 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\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)\Overgrowth, macrocephaly, facial dysmorphism 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\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with early overgrowth (disorder)\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Overgrowth, macrocephaly, facial dysmorphism 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\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Overgrowth, macrocephaly, facial dysmorphism 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\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with early overgrowth (disorder)\Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Overgrowth, macrocephaly, facial dysmorphism 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\Overgrowth, macrocephaly, facial dysmorphism 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
3330795019	Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330796018	Overgrowth, macrocephaly, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330797010	Ring finger protein 135 related overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330798017	RNF135 (ring finger protein 135) related overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
758301000241111	syndrome de croissance excessive-macrocéphalie-dysmorphie faciale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
920561000172119	syndrome de croissance excessive-macrocéphalie-dysmorphie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3330799013	This syndrome has characteristics of tall stature, learning difficulties and facial dysmorphism. So far, it has been described in six families. The syndrome is caused by mutations in the RNF135 (ring finger protein 135) gene.	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)

US English

Back to Start