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 |
| 3332181016 | A multiple congenital anomalies syndrome. Approximately 38 patients have been reported in literature since the first description in 1947. Patients have a short stature and a typical facies. Scalp hair may be primarily present but disappears after the first months of life leading to complete or partial alopecia. Eyebrows and/or eyelashes are sparse. Primary and permanent teeth are formed but fail to erupt. Ocular manifestations may include progressive optic atrophy, glaucoma and strabismus. Otorhinolaryngologic features include choanal atresia and deafness. Patients have a mild intellectual deficit. Some patients have also been reported with umbilical hernia, hyperextensible joints, osseous anomalies and cutaneous manifestations. Homozygous nonsense or splicing mutations in the ANTXR1 gene, encoding anthrax toxin receptor 1 cause GAPO Syndrome. | en | Definition | Inactive | 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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Associated morphology | dysgenese | false | Inferred relationship | Some | 5 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 3 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Finding site | Ectoderm structure | true | Inferred relationship | Some | 3 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Associated morphology | dysgenese | false | Inferred relationship | Some | 4 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | mental retardering | false | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Ectodermal dysplasia with hair-tooth defects | true | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Inherited optic neuropathy | true | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Hereditary disorder of the visual system | false | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Finding site | Optic nerve structure (body structure) | false | Inferred relationship | Some | 7 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 6 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Finding site | Ectoderm structure | false | Inferred relationship | Some | 6 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 4 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Finding site | Optic nerve structure (body structure) | true | Inferred relationship | Some | 1 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Associated morphology | Morphologically abnormal structure | false | Inferred relationship | Some | 5 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Finding site | Tooth structure | false | Inferred relationship | Some | 5 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 4 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Interprets | Height / growth measure | true | Inferred relationship | Some | 6 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction. | true | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Is a | Malformation of teeth (disorder) | true | Inferred relationship | Some | ||
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Interprets | Tooth presence | true | Inferred relationship | Some | 5 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Has interpretation | Absent | true | Inferred relationship | Some | 5 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Finding site | Dentition | true | Inferred relationship | Some | 7 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 7 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Interprets | Intellectual ability | true | Inferred relationship | Some | 8 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 9 | |
| A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. | 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