715867000: syndrome pseudo-aminoptérine (trouble)

• SNOMED CT Concept\constatation clinique\...
• \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\Pseudoaminopterin 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\Pseudoaminopterin syndrome (disorder)
• \Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin 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\Pseudoaminopterin 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\Pseudoaminopterin syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin 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\Pseudoaminopterin 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\Pseudoaminopterin syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin 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\Pseudoaminopterin 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\Pseudoaminopterin 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\Pseudoaminopterin syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin 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\Pseudoaminopterin 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\Pseudoaminopterin 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\Pseudoaminopterin syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Pseudoaminopterin syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303986018	Pseudoaminopterin syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303987010	Pseudoaminopterin syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303990016	Aminopterin syndrome-like sine aminopterin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
748831000241113	syndrome pseudo-aminoptérine (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
889171000172114	syndrome pseudo-aminoptérine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3303989013	A developmental anomaly syndrome that resembles aminopterin embryopathy without history of exposure in utero to aminopterin. Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly and clinodactyly. Also associated with mild-to-moderate intellectual deficit and short stature.	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

Back to Start