716191002: Alopecia and intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Hair finding\Disorder of hair\Alopecia\Alopecia and intellectual disability syndrome (disorder)
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Alopecia and intellectual disability syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Alopecia and intellectual disability syndrome (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Alopecia and intellectual disability syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Alopecia and intellectual disability syndrome (disorder)
• \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\Alopecia and intellectual disability syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Alopecia and intellectual disability syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Alopecia and intellectual disability syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Alopecia and intellectual disability syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Alopecia and intellectual disability syndrome (disorder)
• \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\Alopecia and intellectual disability syndrome (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Alopecia and intellectual disability syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Alopecia and intellectual disability syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia and intellectual disability syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alopecia and intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia and intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Alopecia and intellectual disability syndrome (disorder)
• \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\Alopecia and intellectual disability syndrome (disorder)
• \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\Alopecia and intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Alopecia and intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Alopecia and intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305032014	Alopecia and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305033016	Alopecia and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305034010	Perniola Krajewska Carnevale syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401249015	An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401250015	An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterised by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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