816067005: Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\Alopecia\Woodhouse Sakati syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Woodhouse Sakati syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Woodhouse Sakati 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\Woodhouse Sakati 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\Woodhouse Sakati syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Woodhouse Sakati 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\Woodhouse Sakati 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\Woodhouse Sakati 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\Woodhouse Sakati 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\Woodhouse Sakati syndrome

\Finding of movement\Movement disorder\Extrapyramidal disease\Woodhouse Sakati syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Woodhouse Sakati syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Woodhouse Sakati 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\Woodhouse Sakati syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Woodhouse Sakati syndrome
\Central nervous system finding\Disorder of the central nervous system\Central nervous system complication\Woodhouse Sakati syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Woodhouse Sakati syndrome

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

\Finding of brain\Encephalopathy\Extrapyramidal disease\Woodhouse Sakati syndrome

\Disorder of head\Encephalopathy\Extrapyramidal disease\Woodhouse Sakati syndrome

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Woodhouse Sakati 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\Woodhouse Sakati syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Woodhouse Sakati syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Woodhouse Sakati syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Woodhouse Sakati syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Woodhouse Sakati syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Woodhouse Sakati syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Woodhouse Sakati syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Woodhouse Sakati syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Secondary diabetes mellitus\Diabetes mellitus associated with genetic syndrome\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Woodhouse Sakati 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\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system complication\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Woodhouse Sakati syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Woodhouse Sakati syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Woodhouse Sakati 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\Woodhouse Sakati syndrome
\Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Woodhouse Sakati syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Secondary diabetes mellitus\Diabetes mellitus associated with genetic syndrome\Woodhouse Sakati syndrome
\Disease\Movement disorder\Extrapyramidal disease\Woodhouse Sakati syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Woodhouse Sakati syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Woodhouse Sakati syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Woodhouse Sakati syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3850112013 Diabetes, hypogonadism, deafness, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3850113015 Woodhouse Sakati syndrome en Synonym Active Case sensitive SNOMED CT core

3850114014 Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3850115010 Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Woodhouse Sakati syndrome	Is a	Alopecia	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	Primary hypogonadism	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	Diabetes mellitus associated with genetic syndrome	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Associated with	Genetic disease	true	Inferred relationship	Some	4
Woodhouse Sakati syndrome	Is a	Extrapyramidal disease	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Associated morphology	Absence	true	Inferred relationship	Some	1
Woodhouse Sakati syndrome	Finding site	Hair structure	true	Inferred relationship	Some	1
Woodhouse Sakati syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Woodhouse Sakati syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	2
Woodhouse Sakati syndrome	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	3
Woodhouse Sakati syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Interprets	Movement	true	Inferred relationship	Some	5
Woodhouse Sakati syndrome	Is a	Central nervous system complication	true	Inferred relationship	Some
Woodhouse Sakati syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Woodhouse Sakati syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Woodhouse Sakati syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Woodhouse Sakati syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7

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
3850112013	Diabetes, hypogonadism, deafness, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3850113015	Woodhouse Sakati syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3850114014	Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3850115010	Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner.	en	Definition	Active	Case sensitive	SNOMED CT core