Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3321971014 | Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321972019 | Contracture with ectodermal dysplasia and orofacial cleft syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321973012 | Ladda Zonana Ramer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321974018 | An ectodermal dysplasia syndrome with characteristics of severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3777385013 | An ectodermal dysplasia syndrome with characteristics of severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple naevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 5 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 6 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Inherited arthrogryposis | true | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 1 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | Structure of internal part of mouth | false | Inferred relationship | Some | 2 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 3 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | structure articulaire | false | Inferred relationship | Some | 1 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 7 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | Structure of joint region | true | Inferred relationship | Some | 3 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | interprète (attribut) | Range of joint movement | true | Inferred relationship | Some | 7 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 5 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | dent (structure corporelle) | true | Inferred relationship | Some | 2 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 8 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 8 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse de la tête (structure corporelle) | true | Inferred relationship | Some | 8 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | anomalie congénitale des os du crâne et du visage | true | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 5 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | Structure of internal part of mouth | false | Inferred relationship | Some | 6 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 7 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 7 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | false | Inferred relationship | Some | 9 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | structure articulaire | false | Inferred relationship | Some | 9 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Arthrogryposis | false | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Ectodermal dysplasia with hair-tooth defects | true | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Orofacial cleft (disorder) | true | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 6 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 8 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 8 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 8 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 6 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 5 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 5 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | est un(e) (attribut) | Congenital abnormality of oral cavity | false | Inferred relationship | Some | ||
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | localisation d'une constatation (attribut) | Structure of subregion of head | true | Inferred relationship | Some | 4 | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR