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 |
3317997014 | X-linked intellectual disability with plagiocephaly syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3317998016 | X-linked intellectual disability with plagiocephaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3317999012 | Hyde Forster McCarthy Berry syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
754841000241113 | syndrome de déficience intellectuelle liée à l'X-plagiocéphalie (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
951391000172112 | syndrome de déficience intellectuelle liée à l'X-plagiocéphalie | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
956401000172119 | syndrome de Hyde Forster-McCarthy-Berry | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3318000018 | This syndrome has characteristics of severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | anomalie congénitale du crâne (trouble) | false | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | morphologie associée (attribut) | Deformity | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | localisation d'une constatation (attribut) | crâne (structure corporelle) | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | anomalie morphologique congénitale | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | Congenital abnormality of skull shape | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | Plagiocephaly | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | affection congénitale du tissu conjonctif | false | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | morphologie associée (attribut) | Deformity | false | Inferred relationship | Some | 3 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | localisation d'une constatation (attribut) | crâne (structure corporelle) | false | Inferred relationship | Some | 3 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 4 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets