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 |
5403018012 | Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403019016 | Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterised by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3424248017 | Hypotrichosis with juvenile macular degeneration syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424249013 | Hypotrichosis with juvenile macular degeneration syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424250013 | HJMD (hypotrichosis, juvenile macular degeneration) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6276481000241118 | syndrome HJMD (hypotrichosis with juvenile macular degeneration) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6276491000241116 | hypotrichose avec dégénérescence maculaire juvénile | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
567031000274113 | Hypotrichose mit juveniler Makuladystrophie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
602491000274112 | HJMD - Hypotrichose mit juveniler Makuladystrophie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3437741001000119 | Hypotrichose - juvenile Makuladegeneration | 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 |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Is a | Ectodermal dysplasia | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Is a | Congenital hypotrichia | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Is a | Degenerative disorder of macula (disorder) | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Finding site | Ectoderm structure | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Associated morphology | dégénérescence | false | Inferred relationship | Some | 5 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Finding site | Macula lutea structure | false | Inferred relationship | Some | 5 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Associated morphology | Congenital hypoplasia | false | Inferred relationship | Some | 7 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 7 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 6 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Associated morphology | Morphologically abnormal structure | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Finding site | Macula lutea structure | true | Inferred relationship | Some | 2 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 3 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Associated morphology | dégénérescence | false | Inferred relationship | Some | 2 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Is a | Genodermatosis | false | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Is a | Congenital ectodermal defect | false | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)