1172697000: X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \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\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4635434016	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	en	Synonym	Active	Case sensitive	SNOMED CT core
4635435015	X-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females	en	Synonym	Active	Case sensitive	SNOMED CT core
4635436019	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4635437011	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability and dysmorphic facial features including facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, low-set posteriorly rotated dysplastic ears exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac and urogenital anomalies, along with hypotonia, seizures and structural brain abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core

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Problem/Diagnosis reference set

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