722065002: Okamoto syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)

\Hydronephrosis\Congenital hydronephrosis\Okamoto syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Okamoto syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Orofacial cleft (disorder)\Cleft palate\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\Cleft palate\Okamoto syndrome (disorder)

\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Okamoto syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Okamoto syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Okamoto syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Okamoto syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Okamoto syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Okamoto syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Okamoto syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Okamoto syndrome (disorder)

\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hydronephrosis\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of urinary tract\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of urinary tract\Hydronephrosis\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hydronephrosis\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hydronephrosis\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of urinary tract\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of urinary tract\Hydronephrosis\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Okamoto syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Okamoto syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Okamoto syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Okamoto syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Okamoto syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Okamoto syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Okamoto syndrome (disorder)
\Disease\Congenital disease (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Okamoto syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Growth retardation (disorder)\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital hydronephrosis\Okamoto syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\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

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

869651000172112 syndrome d'Okamoto fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

920031000172115 Okamoto-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

1021001000172112 syndroom van Okamoto nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Okamoto syndrome (disorder)	Is a	Congenital hydronephrosis	true	Inferred relationship	Some
Okamoto syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Okamoto syndrome (disorder)	Is a	Cleft palate	true	Inferred relationship	Some
Okamoto syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Okamoto syndrome (disorder)	Is a	Growth retardation (disorder)	true	Inferred relationship	Some
Okamoto syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Okamoto syndrome (disorder)	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	7
Okamoto syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Okamoto syndrome (disorder)	Finding site	Kidney structure	false	Inferred relationship	Some	7
Okamoto syndrome (disorder)	Associated morphology	Obstruction	false	Inferred relationship	Some	8
Okamoto syndrome (disorder)	Finding site	Renal collecting system structure	false	Inferred relationship	Some	8
Okamoto syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Okamoto syndrome (disorder)	Finding site	Renal collecting system structure	false	Inferred relationship	Some	9
Okamoto syndrome (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	6
Okamoto syndrome (disorder)	Finding site	Palatal structure	false	Inferred relationship	Some	6
Okamoto syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Okamoto syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	5
Okamoto syndrome (disorder)	Associated morphology	Dilatation	false	Inferred relationship	Some	9
Okamoto syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	1
Okamoto syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Okamoto syndrome (disorder)	Finding site	Palatal structure	false	Inferred relationship	Some	1
Okamoto syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
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)	Occurrence	Congenital	true	Inferred relationship	Some	2
Okamoto syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
Okamoto syndrome (disorder)	Finding site	Kidney structure	false	Inferred relationship	Some	1
Okamoto syndrome (disorder)	Finding site	Palatal structure	true	Inferred relationship	Some	2
Okamoto syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Okamoto syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Okamoto syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	2
Okamoto syndrome (disorder)	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	1
Okamoto syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Okamoto syndrome (disorder)	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Okamoto syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	Associated morphology	Obstruction	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	Finding site	Renal collecting system structure	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	Finding site	Renal collecting system structure	true	Inferred relationship	Some	1
Okamoto syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	Finding site	Bone structure of head	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	4
Okamoto syndrome (disorder)	Associated morphology	Growth retardation	true	Inferred relationship	Some	5
Okamoto syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Okamoto syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Okamoto syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Okamoto syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Okamoto syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6

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
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
869651000172112	syndrome d'Okamoto	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
920031000172115	Okamoto-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
1021001000172112	syndroom van Okamoto	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)