722065002: syndrome d'Okamoto (trouble)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\...

\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)

\hydronéphrose\hydronéphrose congénitale\Okamoto syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Orofacial cleft (disorder)\fente palatine\Okamoto 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\Okamoto syndrome (disorder)
\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Okamoto syndrome (disorder)

\affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Okamoto syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Okamoto syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Okamoto syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Okamoto syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Okamoto syndrome (disorder)

\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\hydronéphrose\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of urinary tract proper (disorder)\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of urinary tract proper (disorder)\hydronéphrose\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\hydronéphrose\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\hydronéphrose\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of urinary tract proper (disorder)\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of urinary tract proper (disorder)\hydronéphrose\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Okamoto 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\Okamoto syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Okamoto 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\Okamoto syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Okamoto syndrome (disorder)
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Okamoto syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Okamoto syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Okamoto 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\Okamoto syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Okamoto syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Okamoto syndrome (disorder)
\Disease\trouble du développement\Growth retardation (disorder)\Okamoto 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\Okamoto syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Okamoto 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\Okamoto syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Okamoto syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\hydronéphrose congénitale\Okamoto syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Congenital enlarged kidney\hydronéphrose congénitale\Okamoto 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

3330445016 Okamoto syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3330446015 Okamoto syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

758201000241116 syndrome d'Okamoto (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

869651000172112 syndrome d'Okamoto fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3330447012 Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3330448019 Okamoto syndrome is characterized by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalized hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Okamoto syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Okamoto syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Okamoto syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	3
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	structure d'un rein	false	Inferred relationship	Some	1
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	Palatal structure	true	Inferred relationship	Some	2
Okamoto syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Okamoto syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	3
Okamoto syndrome (disorder)	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	2
Okamoto syndrome (disorder)	morphologie associée (attribut)	Congenital dilatation (morphologic abnormality)	false	Inferred relationship	Some	1
Okamoto syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Okamoto syndrome (disorder)	morphologie associée (attribut)	dilatation	true	Inferred relationship	Some	1
Okamoto syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	morphologie associée (attribut)	obstruction	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	Renal collecting system structure	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	Renal collecting system structure	true	Inferred relationship	Some	1
Okamoto syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse de la tête (structure corporelle)	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	morphologie associée (attribut)	Growth retardation (morphologic abnormality)	true	Inferred relationship	Some	5
Okamoto syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Okamoto syndrome (disorder)	est un(e) (attribut)	hydronéphrose congénitale	true	Inferred relationship	Some
Okamoto syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Okamoto syndrome (disorder)	est un(e) (attribut)	fente palatine	true	Inferred relationship	Some
Okamoto syndrome (disorder)	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
Okamoto syndrome (disorder)	est un(e) (attribut)	Growth retardation (disorder)	true	Inferred relationship	Some
Okamoto syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Okamoto syndrome (disorder)	morphologie associée (attribut)	Congenital dilatation (morphologic abnormality)	false	Inferred relationship	Some	7
Okamoto syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	7
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	structure d'un rein	false	Inferred relationship	Some	7
Okamoto syndrome (disorder)	morphologie associée (attribut)	obstruction	false	Inferred relationship	Some	8
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	Renal collecting system structure	false	Inferred relationship	Some	8
Okamoto syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	6
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	Renal collecting system structure	false	Inferred relationship	Some	9
Okamoto syndrome (disorder)	morphologie associée (attribut)	Congenital failure of fusion	false	Inferred relationship	Some	6
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	Palatal structure	false	Inferred relationship	Some	6
Okamoto syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	5
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	face	false	Inferred relationship	Some	5
Okamoto syndrome (disorder)	morphologie associée (attribut)	dilatation	false	Inferred relationship	Some	9
Okamoto syndrome (disorder)	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	1
Okamoto syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Okamoto syndrome (disorder)	localisation d'une constatation (attribut)	Palatal structure	false	Inferred relationship	Some	1
Okamoto syndrome (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330445016	Okamoto syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330446015	Okamoto syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
758201000241116	syndrome d'Okamoto (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
869651000172112	syndrome d'Okamoto	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3330447012	Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330448019	Okamoto syndrome is characterized by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalized hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core