1237344003: Symptomatic form of fragile X syndrome in female carrier (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\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \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\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \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\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \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\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \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\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (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 (disorder)
• \Disease\Chromosomal disorder (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 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome\Symptomatic form of fragile X syndrome in female carrier (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5097810015	Symptomatic form of fragile X syndrome in female carrier	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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