Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
| 3315799017 | Primary hypergonadotropic hypogonadism and partial alopecia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3315800018 | Al Awadi Farag Teebi syndrome | en | Synonym | Active | Case sensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Is a | Congenital disease | false | Inferred relationship | Some | ||
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Is a | Partial loss of hair | true | Inferred relationship | Some | ||
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Is a | Primary hypogonadism | true | Inferred relationship | Some | ||
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | ||
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Associated morphology | Absence | false | Inferred relationship | Some | 2 | |
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Finding site | Hair structure | false | Inferred relationship | Some | 2 | |
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Associated morphology | Absence | true | Inferred relationship | Some | 1 | |
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Finding site | Hair structure | true | Inferred relationship | Some | 1 | |
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR