720981000: Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\...

\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

\Alopecia\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism 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\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322766014 Devriendt Vandenberghe Fryns syndrome en Synonym Active Case sensitive SNOMED CT core

3322769019 Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3322770018 Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome en Synonym Active Case insensitive SNOMED CT core

3322767017 This syndrome has characteristics of the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. It has been described in two brothers born to non consanguineous parents of Caucasian origin. Electroencephalogram findings were normal in both cases. Autosomal recessive transmission was considered likely but an X-linked recessive mode of inheritance could not be excluded. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Finding site	Hair structure	true	Inferred relationship	Some	2
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Is a	Congenital alopecia	true	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Associated morphology	Absence	true	Inferred relationship	Some	2
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Is a	Congenital alopecia	false	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Is a	Total congenital alopecia	false	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Is a	Primary hypogonadism	true	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Finding site	Hair structure	false	Inferred relationship	Some	3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

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
3322766014	Devriendt Vandenberghe Fryns syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322769019	Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322770018	Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322767017	This syndrome has characteristics of the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. It has been described in two brothers born to non consanguineous parents of Caucasian origin. Electroencephalogram findings were normal in both cases. Autosomal recessive transmission was considered likely but an X-linked recessive mode of inheritance could not be excluded.	en	Definition	Active	Case sensitive	SNOMED CT core