1156584007: X-linked intellectual disability hypotonic face syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\X-linked intellectual disability hypotonic face syndrome
• \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\X-linked intellectual disability hypotonic face syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability hypotonic face syndrome
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\X-linked intellectual disability hypotonic face syndrome
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\X-linked intellectual disability hypotonic face syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability hypotonic face syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability hypotonic face syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability hypotonic face syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability hypotonic face syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4575298010	X-linked intellectual disability hypotonic face syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4575299019	X-linked intellectual disability hypotonic face syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
4575308015	Carpenter Waziri syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4575311019	Holmes Gang syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4575312014	Smith Fineman Myers syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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