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 |
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 |
3424252017 | A very rare syndrome that presents with short and sparse scalp hair from birth or the first months of life with no subsequent growth during life. During the first to third decades of life, visual acuity decreases because of progressive macular degeneration, leading in many cases to blindness between the second and fourth decades of life. The hair phenotype does not improve significantly with age, even though diffuse alopecia in infancy can evolve towards short and sparse hair in puberty. Caused by mutations in the CDH3 gene (16q22.1), encoding P-cadherin. P-cadherin is part of adherens junctions in various epithelia including the hair follicular epithelium. Inherited in an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | localisation d'une constatation (attribut) | Macula lutea structure | true | Inferred relationship | Some | 2 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 3 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 2 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | est un(e) (attribut) | Genodermatosis | false | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | est un(e) (attribut) | Congenital ectodermal defect | false | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | est un(e) (attribut) | Ectodermal dysplasia | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | est un(e) (attribut) | Congenital hypotrichia (disorder) | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | est un(e) (attribut) | Degenerative disorder of macula (disorder) | true | Inferred relationship | Some | ||
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 4 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 5 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | localisation d'une constatation (attribut) | Macula lutea structure | false | Inferred relationship | Some | 5 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | morphologie associée (attribut) | Congenital hypoplasia | false | Inferred relationship | Some | 7 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 7 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets