722065002: Okamoto syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital hydronephrosis\Okamoto syndrome

\Hydronephrosis\Congenital hydronephrosis\Okamoto syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Okamoto syndrome

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

\Finding of head region\Orofacial cleft\Cleft palate\Okamoto syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Okamoto syndrome
\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Okamoto syndrome

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

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

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3330446015 Okamoto syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330445016	Okamoto syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3330446015	Okamoto syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core