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 |
| 6800981000146113 | GAPO-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12576491000146114 | syndroom van groeiretardatie, alopecia, pseudoanodontie en opticusatrofie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12576501000146116 | syndroom van groeiretardatie, alopecia, pseudoanodontie en opticusatrofie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | 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 | gebrekkige ontwikkeling (afwijkende morfologie) | 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 | congenitale dysplasie (afwijkende morfologie) | 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 | gebrekkige ontwikkeling (afwijkende morfologie) | 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 | mentale retardatie | 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 | congenitale dysplasie (afwijkende morfologie) | 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 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | Is a | Congenital neurological disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR