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 |
| 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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | survenue (attribut) | congénital | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | survenue (attribut) | congénital | 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) | localisation d'une constatation (attribut) | Optic nerve structure | true | Inferred relationship | Some | 1 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | morphologie associée (attribut) | dysplasie | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | localisation d'une constatation (attribut) | dent (structure corporelle) | false | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 6 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | False anodontia | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Malformation of teeth (disorder) | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | interprète (attribut) | Tooth presence | true | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | a pour interprétation (attribut) | Absent | true | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | localisation d'une constatation (attribut) | dents | true | Inferred relationship | Some | 7 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 5 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 3 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Ectodermal dysplasia with hair-tooth defects | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Inherited optic neuropathy | true | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | false | Inferred relationship | Some | ||
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 4 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 7 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | localisation d'une constatation (attribut) | Optic nerve structure | false | Inferred relationship | Some | 7 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 6 | |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR