722122000: Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Occipitofrontal circumference greater than two standard deviations above the mean for a given age, sex or gestation (i.e. equal to or greater than the 97th percentile).\Congenital macrocephaly (disorder)\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \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\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \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\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \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\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Body measurement finding\Finding of head circumference (finding)\Occipitofrontal circumference greater than two standard deviations above the mean for a given age, sex or gestation (i.e. equal to or greater than the 97th percentile).\Congenital macrocephaly (disorder)\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \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\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.

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
3330799013	This syndrome has characteristics of tall stature, learning difficulties and facial dysmorphism. So far, it has been described in six families. The syndrome is caused by mutations in the RNF135 (ring finger protein 135) gene.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402837012	A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402838019	A rare overgrowth syndrome characterised by tall stature, learning difficulties and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330795019	Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330796018	Overgrowth, macrocephaly, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330797010	Ring finger protein 135 related overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330798017	RNF135 (ring finger protein 135) related overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

Description inactivation indicator reference set

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