Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
26374019 | Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
273001000077113 | ostéogénèse imparfaite létale périnatale récessive avec microcéphalie et cataractes | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
554031000077110 | ostéogénèse imparfaite létale périnatale récessive avec microcéphalie et cataractes (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
742396013 | Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | interprète (attribut) | Bone formation, function (observable entity) | true | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 5 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 5 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Congenital anomaly of eye | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Ear, face and neck congenital anomalies | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Congenital cataract | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Osteogenesis imperfecta, recessive perinatal lethal | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | opacité | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Osteogenesis imperfecta, perinatal lethal | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | Congenital anomaly of visual system | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | Entire brain | false | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | Congenital cataract | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 5 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | dysplasie | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | Connective tissue structure | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | survenue (attribut) | congénital | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | Skeletal system structure | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | Connective tissue | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | morphologie associée (attribut) | Congenital opacity | false | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets