1237344003: Symptomatic form of fragile X syndrome in female carrier (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \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\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Developmental disorder\Developmental hereditary disorder\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5097809013	Symptomatic form of fragile X syndrome in female carrier (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
5097810015	Symptomatic form of fragile X syndrome in female carrier	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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