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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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 malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\trouble du développement\Developmental hereditary disorder\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\trouble du développement\retard de développement\Global developmental delay\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4635435015	X-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4635436019	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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