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 (disorder)\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\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\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (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\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\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\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia (disorder)\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 (disorder)\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 (disorder)\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\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 (disorder)\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia (disorder)\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 (disorder)\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 (disorder)\Reproductive system hereditary disorder (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\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 (disorder)\Partial loss of hair\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\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 (disorder)\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
3315795011	Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
3315801019	This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia. So far, it has been described in seven patients from three families. Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia and primary amenorrhea were described in the females. The male appeared to have germinal cell aplasia. All patients displayed partial scalp alopecia, and axillary and pubic hair was sparse or absent in the females but normal in the male patient. Additional findings in some of the female patients included sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis and mild intellectual deficit. Transmission was autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315802014	This syndrome is characterised by primary hypergonadotropic hypogonadism and partial alopecia. So far, it has been described in seven patients from three families. Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia and primary amenorrhoea were described in the females. The male appeared to have germinal cell aplasia. All patients displayed partial scalp alopecia, and axillary and pubic hair was sparse or absent in the females but normal in the male patient. Additional findings in some of the female patients included sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis and mild intellectual deficit. Transmission was autosomal recessive.	en	Definition	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
3410561001000118	Hypergonadotroper Hypogonadismus, primärer - partielle Alopezie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
888741000172113	syndrome d'Al Awadi-Farag-Teebi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
908031000172113	syndrome d'hypogonadisme hypergonadotrope primaire-alopécie partielle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
888741000172113	syndrome d'Al Awadi-Farag-Teebi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
908031000172113	syndrome d'hypogonadisme hypergonadotrope primaire-alopécie partielle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410561001000118	Hypergonadotroper Hypogonadismus, primärer - partielle Alopezie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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