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 |
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 |
951391000172112 | syndrome de déficience intellectuelle liée à l'X-plagiocéphalie | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
956401000172119 | syndrome de Hyde Forster-McCarthy-Berry | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
912531000172115 | syndroom van Hyde Forster-McCarthy-Berry | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
1012111000172110 | intellectuele achterstand, X-gebonden, plagiocefalie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | Plagiocephaly | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | retard mental | false | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | Congenital connective tissue disorder | false | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Associated morphology | Deformity | false | Inferred relationship | Some | 3 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Finding site | Bone structure of cranium | false | Inferred relationship | Some | 3 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
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) | Occurrence | Congenital | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | Congenital anomaly of skull | false | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Associated morphology | Deformity | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Finding site | Bone structure of cranium | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | Congenital deformity | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | Congenital abnormality of skull shape | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets