Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3701290014 | Microcephalic primordial dwarfism Alazami type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3701291013 | Microcephalic primordial dwarfism Alazami type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3701292018 | Alazami syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404810014 | A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404811013 | A rare form of primordial dwarfism, often microcephalic, characterised by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microcephalic primordial dwarfism Alazami type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Microcephalic primordial dwarfism Alazami type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Is a | Primordial dwarfism | true | Inferred relationship | Some | ||
Microcephalic primordial dwarfism Alazami type (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Microcephalic primordial dwarfism Alazami type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Microcephalic primordial dwarfism Alazami type (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
Microcephalic primordial dwarfism Alazami type (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
Microcephalic primordial dwarfism Alazami type (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Microcephalic primordial dwarfism Alazami type (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 2 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 2 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Microcephalic primordial dwarfism Alazami type (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 3 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 2 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
Microcephalic primordial dwarfism Alazami type (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Microcephalic primordial dwarfism Alazami type (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)