1208344000: Fryns Smeets Thiry syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe intellectual disability\Fryns Smeets Thiry 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\Fryns Smeets Thiry syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns Smeets Thiry syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns Smeets Thiry syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe intellectual disability\Fryns Smeets Thiry syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Fryns Smeets Thiry syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Fryns Smeets Thiry syndrome
• \Disease\Genetic disease\Fryns Smeets Thiry syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns Smeets Thiry syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns Smeets Thiry syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fryns Smeets Thiry syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns Smeets Thiry syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability\Fryns Smeets Thiry syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fryns Smeets Thiry syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns Smeets Thiry syndrome

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4963748011	Fryns Smeets Thiry syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4963749015	Fryns Smeets Thiry syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4963750015	A rare genetic syndromic intellectual disability disorder with characteristics of severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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