773416006: Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Intellectual disability, facial dysmorphism, hand anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, facial dysmorphism, hand anomalies syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723469018	Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3723470017	Intellectual disability, facial dysmorphism, hand anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3723471018	A rare syndromic intellectual disability disorder with characteristics of moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly) and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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