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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \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\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \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\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \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\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724065012	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724066013	Beaulieu Boycott Innes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724067016	THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724068014	BBIS - Beaulieu Boycott Innes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724064011	THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724065012	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724066013	Beaulieu Boycott Innes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724067016	THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724068014	BBIS - Beaulieu Boycott Innes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3393441001000116	THOC6-assoziierte Entwicklungsverzögerung mit Mikrozephalie und Gesichtsdysmorphien	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393441001000116	THOC6-assoziierte Entwicklungsverzögerung mit Mikrozephalie und Gesichtsdysmorphien	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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