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

3305035011 An extremely rare syndrome described in less than 20 families to date and has characteristics of 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

3865341000052116 Perniola-Krajewska-Carnevales syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alopecia and intellectual disability syndrome (disorder)	Is a	Alopecia	true	Inferred relationship	Some
Alopecia and intellectual disability syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Alopecia and intellectual disability syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Alopecia and intellectual disability syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Alopecia and intellectual disability syndrome (disorder)	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Alopecia and intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Alopecia and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Alopecia and intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Alopecia and intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Alopecia and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Alopecia and intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Alopecia and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
3305035011	An extremely rare syndrome described in less than 20 families to date and has characteristics of 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
3865341000052116	Perniola-Krajewska-Carnevales syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)