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

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Hair finding\Disorder of hair\...

\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type

\Alopecia (disorder)\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Alopecia, epilepsy, intellectual disability syndrome Moynahan type

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Alopecia, epilepsy, intellectual disability syndrome Moynahan type

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\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\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\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 (disorder)\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\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 (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Alopecia, epilepsy, intellectual disability syndrome Moynahan type

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Alopecia, epilepsy, intellectual disability syndrome Moynahan type

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\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\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\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 (disorder)\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Alopecia, epilepsy, intellectual disability syndrome Moynahan type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\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\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\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 (disorder)\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\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\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\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 (disorder)\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Alopecia, epilepsy, intellectual disability syndrome Moynahan type
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia, epilepsy, intellectual disability syndrome Moynahan type

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	Epilepsy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Finding site	Hair structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	Hereditary disorder of the integument (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	Congenital alopecia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
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
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
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
3418051001000114	Moynahan-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5977191000241111	syndrome de Moynahan	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5977201000241113	syndrome d'alopécie, épilepsie et déficience intellectuelle de type Moynahan	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5977191000241111	syndrome de Moynahan	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5977201000241113	syndrome d'alopécie, épilepsie et déficience intellectuelle de type Moynahan	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418051001000114	Moynahan-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module