773554009: THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3724064011	THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3724065012	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3724066013	Beaulieu Boycott Innes syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3724067016	THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3724068014	BBIS - Beaulieu Boycott Innes syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3724069018	A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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