719834005: Wilson Turner syndrome (disorder)

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

\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\Wilson Turner syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wilson Turner syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wilson Turner syndrome (disorder)

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

\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Obesity by fat distribution pattern (disorder)\Central obesity\Wilson Turner syndrome (disorder)

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

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

3318094019 Wilson Turner syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3318098016 Wilson Turner syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402245011 Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402246012 Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterised by intellectual disability, truncal obesity, gynaecomastia, hypogonadism, dysmorphic facial features, and short stature. 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
Wilson Turner syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Wilson Turner syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Wilson Turner syndrome (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Wilson Turner syndrome (disorder)	Is a	Central obesity	true	Inferred relationship	Some
Wilson Turner syndrome (disorder)	Has definitional manifestation	Obese (finding)	false	Inferred relationship	Some
Wilson Turner syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Wilson Turner syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Wilson Turner syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	2
Wilson Turner syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Wilson Turner syndrome (disorder)	Interprets	Body weight measure	true	Inferred relationship	Some	2
Wilson Turner syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Wilson Turner syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Wilson Turner syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Wilson Turner syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Wilson Turner syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Wilson Turner syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Wilson Turner syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Wilson Turner syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Wilson Turner syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Wilson Turner syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318094019	Wilson Turner syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318098016	Wilson Turner syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402245011	Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402246012	Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterised by intellectual disability, truncal obesity, gynaecomastia, hypogonadism, dysmorphic facial features, and short stature.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core