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 |
| 3332176013 | Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332178014 | Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332179018 | GAPO syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332180015 | GAPO (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402708016 | A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402709012 | A rare, genetic, multiple congenital anomalies syndrome characterised by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 3 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Ectodermal dysplasia with hair-tooth defects | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Inherited optic neuropathy | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | false | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Finding site | Optic nerve structure | false | Inferred relationship | Some | 7 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 6 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Finding site | Optic nerve structure | true | Inferred relationship | Some | 1 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Finding site | Tooth structure | false | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 6 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | False anodontia | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Malformation of teeth (disorder) | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Interprets | Tooth presence | true | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Finding site | Dentition | true | Inferred relationship | Some | 7 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 8 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 9 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 9 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR