719834005: Wilson Turner syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wilson Turner syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wilson Turner syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wilson Turner syndrome

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

\General finding of observation of patient\Body measurement finding\Weight finding\High body weight\Obese\Obesity\Obesity by fat distribution pattern\Central obesity\Wilson Turner syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Wilson Turner syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Wilson Turner syndrome
\Disease\Obesity\Obesity by fat distribution pattern\Central obesity\Wilson Turner syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wilson Turner syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wilson Turner syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Wilson Turner syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wilson Turner syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Wilson Turner syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Wilson Turner syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Wilson Turner syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Wilson Turner syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3318094019 Wilson Turner syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3318098016 Wilson Turner syndrome en Synonym Active Case sensitive SNOMED CT core

3318096017 A very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. The syndrome has been described in two families to date. The syndrome has been linked to a mutation in the consensus donor splice site of the histone deacetylase 8 HDAC8 gene (Xq13). X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported. en Definition Active Case sensitive SNOMED CT core

3318097014 A very rare X-linked multisystem genetic disease characterised by intellectual disability, truncal obesity, gynaecomastia, hypogonadism, dysmorphic facial features, and short stature. The syndrome has been described in two families to date. The syndrome has been linked to a mutation in the consensus donor splice site of the histone deacetylase 8 HDAC8 gene (Xq13). X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Wilson Turner syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Wilson Turner syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Wilson Turner syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Wilson Turner syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Wilson Turner syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Wilson Turner syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Wilson Turner syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Wilson Turner syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Wilson Turner syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Wilson Turner syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Wilson Turner syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Wilson Turner syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Wilson Turner syndrome	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Wilson Turner syndrome	Is a	Central obesity	true	Inferred relationship	Some
Wilson Turner syndrome	Has definitional manifestation	Obese	false	Inferred relationship	Some
Wilson Turner syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Wilson Turner syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Wilson Turner syndrome	Finding site	Face structure	false	Inferred relationship	Some	2
Wilson Turner syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Wilson Turner syndrome	Interprets	Body weight measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318094019	Wilson Turner syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3318098016	Wilson Turner syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318096017	A very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. The syndrome has been described in two families to date. The syndrome has been linked to a mutation in the consensus donor splice site of the histone deacetylase 8 HDAC8 gene (Xq13). X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
3318097014	A very rare X-linked multisystem genetic disease characterised by intellectual disability, truncal obesity, gynaecomastia, hypogonadism, dysmorphic facial features, and short stature. The syndrome has been described in two families to date. The syndrome has been linked to a mutation in the consensus donor splice site of the histone deacetylase 8 HDAC8 gene (Xq13). X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported.	en	Definition	Active	Case sensitive	SNOMED CT core