Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4672737014 | Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4672738016 | Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4672739012 | A rare genetic non-dystrophic congenital myopathy disorder characterized by neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4672740014 | A rare genetic non-dystrophic congenital myopathy disorder characterised by neonatal-onset of severe generalised hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fibre size. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | retard de développement | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | Poor muscle tone (finding) | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | Congenital septal defect of heart (disorder) | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | Congenital strabismus | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | interprète (attribut) | Muscle tone | true | Inferred relationship | Some | 4 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | localisation d'une constatation (attribut) | Eye region structure (body structure) | true | Inferred relationship | Some | 2 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | localisation d'une constatation (attribut) | Cardiac septum structure | true | Inferred relationship | Some | 3 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | morphologie associée (attribut) | Defect | true | Inferred relationship | Some | 3 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | est un(e) (attribut) | Decreased muscle tone (finding) | true | Inferred relationship | Some | ||
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR