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 |
3325083016 | Macrocephaly, short stature, paraplegia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3330236015 | Macrocephaly, short stature, paraplegia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3330237012 | Volcke Soekarman syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402781013 | A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402782018 | A rare, syndromic intellectual disability characterised by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Is a | Dandy-Walker syndrome | true | Inferred relationship | Some | ||
Macrocephaly, short stature, paraplegia syndrome (disorder) | Is a | Macrocephaly | false | Inferred relationship | Some | ||
Macrocephaly, short stature, paraplegia syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Macrocephaly, short stature, paraplegia syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
Macrocephaly, short stature, paraplegia syndrome (disorder) | Is a | Congenital paraplegia | false | Inferred relationship | Some | ||
Macrocephaly, short stature, paraplegia syndrome (disorder) | Is a | Spastic paraplegia | true | Inferred relationship | Some | ||
Macrocephaly, short stature, paraplegia syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 7 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 9 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 9 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Lateral aperture of fourth ventricle | false | Inferred relationship | Some | 9 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Foramen of Magendie | false | Inferred relationship | Some | 9 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 12 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Aplasia | false | Inferred relationship | Some | 10 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 10 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 7 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 7 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 11 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | false | Inferred relationship | Some | 11 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 12 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 12 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Congenital enlargement | false | Inferred relationship | Some | 8 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Entire head | false | Inferred relationship | Some | 8 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Entire head | false | Inferred relationship | Some | 2 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 4 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Congenital enlargement | false | Inferred relationship | Some | 2 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | true | Inferred relationship | Some | 6 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 6 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 3 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Fourth ventricle structure | true | Inferred relationship | Some | 5 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 5 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 4 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Enlargement (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 6 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 8 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Is a | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
Macrocephaly, short stature, paraplegia syndrome (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 2 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 9 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 9 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 10 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 10 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Is a | Extrapyramidal disease | true | Inferred relationship | Some | ||
Macrocephaly, short stature, paraplegia syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 7 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 11 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 12 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 13 | |
Macrocephaly, short stature, paraplegia syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 13 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)