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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Intellectual ability - finding\Intellectual disability\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier
• \Functional finding\Intelligence finding\Intellectual ability - finding\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 chromosomal disease\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 anomaly\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 anomaly\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 chromosomal disease\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 anomaly\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 anomaly\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, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5097809013	Symptomatic form of fragile X syndrome in female carrier (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5097810015	Symptomatic form of fragile X syndrome in female carrier	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5097811016	A rare genetic disease with characteristics of a variable clinical phenotype, which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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