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 |
5402217017 | A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402218010 | A rare, syndromic intellectual disability characterised by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. | 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) | 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 | Mental retardation | 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 | false | 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 | |
X-linked intellectual disability with plagiocephaly syndrome (disorder) | Is a | Congenital deformity of musculoskeletal system (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)