Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5403710012 | Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403711011 | Deafness-vitiligo-achalasia syndrome is characterised by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3498670013 | Deafness, vitiligo, achalasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498671012 | Deafness, vitiligo, achalasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5846251000241116 | syndrome de surdité, vitiligo et achalasie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3430561001000112 | Schwerhörigkeit - Vitiligo - Achalasie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Congenital deficiency of pigment of skin | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Vitiligo | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Congenital deafness | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Congenital achalasia of esophagus | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Finding site | Skin structure | true | Inferred relationship | Some | 3 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Finding site | Cardioesophageal junction structure | false | Inferred relationship | Some | 5 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Associated morphology | Congenital hypopigmentation | false | Inferred relationship | Some | 6 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Finding site | Oesophageal structure | false | Inferred relationship | Some | 4 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Has interpretation | Abnormal | true | Inferred relationship | Some | 4 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Interprets | Motility (observable entity) | true | Inferred relationship | Some | 4 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 7 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Finding site | Inner ear structure | false | Inferred relationship | Some | 7 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Finding site | Inner ear structure | true | Inferred relationship | Some | 2 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Finding site | Cardioesophageal junction structure | true | Inferred relationship | Some | 1 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Associated morphology | Hypopigmentation | true | Inferred relationship | Some | 3 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Congenital anomaly of ear with impairment of hearing | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Congenital anomaly of inner ear | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Interprets | Hearing | true | Inferred relationship | Some | 5 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Interprets | Height / growth measure | true | Inferred relationship | Some | 6 | |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)