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
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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