719275009: Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)

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

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

\Hair finding\Disorder of hair\Alopecia\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia 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\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Primary hypergonadotropic hypogonadism and partial alopecia 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\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Primary hypergonadotropic hypogonadism and partial alopecia 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\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia 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\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3315795011 Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3315799017 Primary hypergonadotropic hypogonadism and partial alopecia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3315800018 Al Awadi Farag Teebi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402047014 A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402048016 A rare endocrine disorder characterised by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhoea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Is a	Partial loss of hair	true	Inferred relationship	Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Is a	Primary hypogonadism (disorder)	true	Inferred relationship	Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	false	Inferred relationship	Some	2
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	3
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315795011	Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315799017	Primary hypergonadotropic hypogonadism and partial alopecia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315800018	Al Awadi Farag Teebi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402047014	A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402048016	A rare endocrine disorder characterised by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhoea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core