1237179007: FG syndrome type 1 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\FG syndrome type 1
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \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\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\FG syndrome type 1
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\FG syndrome type 1
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\FG syndrome type 1
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\FG syndrome type 1
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\FG syndrome type 1
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\FG syndrome type 1
• \Disease\Developmental disorder\Developmental hereditary disorder\FG syndrome type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\FG syndrome\FG syndrome type 1
• \Disease\Developmental disorder\Developmental delay\FG syndrome type 1

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5090958013	FG syndrome type 1 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5090959017	FG syndrome type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
5090960010	Opitz Kaveggia syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5090963012	A rare X-linked syndromic intellectual disability with characteristics of developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please) and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies and abnormalities of the fingers and toes among others. Caused by mutation in the MED12 gene on chromosome Xq13.	en	Definition	Active	Case sensitive	SNOMED CT core
5090964018	A rare X-linked syndromic intellectual disability with characteristics of developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please) and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies and abnormalities of the fingers and toes among others. Caused by mutation in the MED12 gene on chromosome Xq13.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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