1351843001: Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature 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\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature 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\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature 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\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
• \Disease\Genetic disease\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature 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\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature 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\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature 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\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5415437019	Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415438012	Diets Jongmans syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415439016	KDM3B-related intellectual disability, facial dysmorphism, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415440019	Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415441015	A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominent nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to KDM3B mutations. Neonatal feeding difficulties, childhood hypotonia, and behavior problems were also reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415442010	A rare multiple congenital anomalies/dysmorphic syndrome characterised by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominent nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to KDM3B mutations. Neonatal feeding difficulties, childhood hypotonia, and behaviour problems were also reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415437019	Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415438012	Diets Jongmans syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415439016	KDM3B-related intellectual disability, facial dysmorphism, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415440019	Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415441015	A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominent nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to KDM3B mutations. Neonatal feeding difficulties, childhood hypotonia, and behavior problems were also reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415442010	A rare multiple congenital anomalies/dysmorphic syndrome characterised by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominent nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to KDM3B mutations. Neonatal feeding difficulties, childhood hypotonia, and behaviour problems were also reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

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

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