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

• SNOMED CT Concept\Clinical finding (finding)\...
• \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
• \Head finding (finding)\Disorder of head (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\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
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Functional finding\Cognitive function finding (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 (disorder)\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of head (disorder)\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\Disorder of head (disorder)\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\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 malformation\Congenital malformation syndrome (disorder)\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 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\Developmental disorder\Developmental delay\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
5399398010	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and 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, as well as hypotonia, seizures, and structural brain abnormalities, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399399019	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and 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, as well as hypotonia, seizures, and structural brain abnormalities, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Component annotation with string value reference set (foundation metadata concept)

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