1187247007: WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities 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\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Disease\Genetic disease\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Developmental delay\WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4672913018	WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4672914012	WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4672915013	WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4672916014	WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4672917017	WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4672920013	A rare genetic syndromic intellectual disability characterized by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples and hirsutism. Behavioral problems tend to be dominated by attention deficit hyperactivity disorder, but anxiety, aggressive outbursts and autistic features may also present.	en	Definition	Active	Case sensitive	SNOMED CT core
4672921012	A rare genetic syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioural problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples and hirsutism. Behavioural problems tend to be dominated by attention deficit hyperactivity disorder, but anxiety, aggressive outbursts and autistic features may also present.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start