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15552004: Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder)


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


0 descendants.

Expanded Value Set


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

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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