Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4591681017 | Mayer Rokitansky Küster Hauser syndrome type 1 | en | Synonym | Active | Case sensitive | SNOMED CT core |
4591682012 | Mayer Rokitansky Küster Hauser syndrome type 1 (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
4591683019 | MRKH (Mayer Rokitansky Küster Hauser) syndrome type 1 | en | Synonym | Active | Case sensitive | SNOMED CT core |
4591693014 | An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. | en | Definition | Active | Case sensitive | SNOMED CT core |
4591694015 | An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact etiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Mayer Rokitansky Küster Hauser syndrome type 1 | Is a | Rokitansky sequence | true | Inferred relationship | Some | ||
Mayer Rokitansky Küster Hauser syndrome type 1 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Mayer Rokitansky Küster Hauser syndrome type 1 | Finding site | Structure of upper third of vagina | true | Inferred relationship | Some | 1 | |
Mayer Rokitansky Küster Hauser syndrome type 1 | Associated morphology | Absence | true | Inferred relationship | Some | 1 | |
Mayer Rokitansky Küster Hauser syndrome type 1 | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Mayer Rokitansky Küster Hauser syndrome type 1 | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Mayer Rokitansky Küster Hauser syndrome type 1 | Finding site | Uterine structure | true | Inferred relationship | Some | 2 | |
Mayer Rokitansky Küster Hauser syndrome type 1 | Associated morphology | Absence | true | Inferred relationship | Some | 2 | |
Mayer Rokitansky Küster Hauser syndrome type 1 | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Mayer Rokitansky Küster Hauser syndrome type 1 | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Mayer Rokitansky Küster Hauser syndrome type 1 | Finding site | Structure of middle third of vagina | true | Inferred relationship | Some | 3 | |
Mayer Rokitansky Küster Hauser syndrome type 1 | Associated morphology | Absence | true | Inferred relationship | Some | 3 | |
Mayer Rokitansky Küster Hauser syndrome type 1 | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set