788417006: Alopecia, epilepsy, intellectual disability syndrome Moynahan type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding (finding)\...
• \Hair finding\Disorder of hair\...
• \Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Alopecia\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \General finding of soft tissue\Skin finding (finding)\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \General finding of soft tissue\Skin finding (finding)\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Integumentary system finding\Skin finding (finding)\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Integumentary system finding\Skin finding (finding)\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Neurological finding (finding)\Seizure related finding\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3780618015	A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3780615017	Moynahan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3780616016	Alopecia, epilepsy, intellectual disability syndrome Moynahan type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3780617013	Alopecia, epilepsy, intellectual disability syndrome Moynahan type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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