1197591008: Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Deformity of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Deformity\Deformity of limb\Deformity of lower limb\Angulation deformity of lower limb\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Deformity\Deformity of limb\Deformity of lower limb\Deformity of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Deformity\Congenital deformity\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe intellectual disability\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Deformity of limb\Deformity of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Deformity of limb\Deformity of lower limb\Angulation deformity of lower limb\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Deformity of limb\Deformity of lower limb\Deformity of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Finding of lower limb\Deformity of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Finding of lower limb\Deformity of lower limb\Angulation deformity of lower limb\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Finding of lower limb\Deformity of lower limb\Deformity of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Deformity of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \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\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disorder of head\Disorder of eye region\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \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\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \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\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disorder of head\Congenital anomaly of head\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Eye / vision finding\Visual system disorder\...
• \Disorder of eye region\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Hereditary disorder of the visual system\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Congenital anomaly of visual system\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disorder of eye movements\Strabismus\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe intellectual disability\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of head\Disorder of eye region\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \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\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \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\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \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\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \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\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \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\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \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\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \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\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \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\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital deformity of foot\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4697279019	Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4697280016	Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4697282012	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
4697283019	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behaviour during sleep have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

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Problem/Diagnosis reference set

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