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

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\...

\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome

\Alopecia\Congenital alopecia\Moynahan syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Moynahan syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Moynahan syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Moynahan syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Moynahan syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Moynahan syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Moynahan syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Moynahan syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Moynahan syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Moynahan syndrome
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Moynahan syndrome

\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Moynahan syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Moynahan syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Moynahan syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Moynahan syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Moynahan syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Moynahan syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Moynahan syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Moynahan syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Moynahan syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Moynahan syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Moynahan syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Moynahan syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Moynahan syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Moynahan syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Moynahan syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Moynahan syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Moynahan syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Moynahan syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Moynahan syndrome
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Moynahan syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Moynahan syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Moynahan syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Moynahan syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Moynahan syndrome

Status: current, Primitive. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3780615017 Moynahan syndrome en Synonym Active Case sensitive SNOMED CT core

3780616016 Alopecia, epilepsy, intellectual disability syndrome Moynahan type en Synonym Active Initial character case insensitive SNOMED CT core

3780617013 Alopecia, epilepsy, intellectual disability syndrome Moynahan type (disorder) en Fully specified name Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Moynahan syndrome	Is a	Epilepsy	true	Inferred relationship	Some
Moynahan syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Moynahan syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Moynahan syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Moynahan syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Moynahan syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Some	2
Moynahan syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Moynahan syndrome	Finding site	Hair structure	true	Inferred relationship	Some	1
Moynahan syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Moynahan syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Moynahan syndrome	Is a	Congenital alopecia	true	Inferred relationship	Some
Moynahan syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Moynahan syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Moynahan syndrome	Associated morphology	Absence	true	Inferred relationship	Some	1
Moynahan syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Moynahan syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Moynahan syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Moynahan syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3780615017	Moynahan syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3780616016	Alopecia, epilepsy, intellectual disability syndrome Moynahan type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3780617013	Alopecia, epilepsy, intellectual disability syndrome Moynahan type (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core