Status: current. Date: 30-Jul 2019
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757547012 | 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3757548019 | 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3757549010 | A rare genetic developmental defect during embryogenesis disorder with characteristics of partial (unilateral testis, persistence of Mullerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating mini fascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. May be caused by mutation in the desert hedgehog gene (DHH). | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757550010 | A rare genetic developmental defect during embryogenesis disorder with characteristics of partial (unilateral testis, persistence of Mullerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhoea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating mini fascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumours (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. May be caused by mutation in the desert hedgehog gene (DHH). | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408453010 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408454016 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterised by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhoea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumours (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | Is a | Reproductive system hereditary disorder | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | Is a | Autosomal recessive hereditary disorder | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | Is a | Gonadal dysgenesis | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | Pathological process (attribute) | Pathological developmental process | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | Is a | Hereditary disorder of nervous system | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | Is a | Mixed sensory-motor polyneuropathy | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | Occurrence | Congenital | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | Finding site | Gonadal structure | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | Finding site | Peripheral nerve structure | true | SNOMED RT Concept | SNOMED RT Concept | 2 | |
| 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | Is a | Developmental hereditary disorder | true | SNOMED RT Concept | SNOMED RT Concept |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR