Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 719275009 |
Code System Concept Name | Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) |
Code System Preferred Concept Name | Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 01/31/2017 |
SDO Date Created | 01/31/2017 |
SDO Date Revised | 01/31/2017 |
Description | 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. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3315799017 | Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Active | Synonym | false | false |
3315800018 | Al Awadi Farag Teebi syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Congenital disease (disorder)
{66091009
, SNOMED-CT
}
Hereditary disorder of endocrine system (disorder)
{363104002
, SNOMED-CT
}
Hereditary disorder of the integument (disorder)
{363185004
, SNOMED-CT
}
Partial loss of hair (disorder)
{247541001
, SNOMED-CT
}
Primary hypogonadism (disorder)
{370999003
, SNOMED-CT
}
Reproductive system hereditary disorder (disorder)
{363290007
, SNOMED-CT
}
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: