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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
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
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
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
638981000274110 Syndrom mit Osteogenesis imperfecta, Mikrozephalie UND Katarakten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445551001000115 Osteogenesis imperfecta - Mikrozephalie - Katarakte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
638981000274110 Syndrom mit Osteogenesis imperfecta, Mikrozephalie UND Katarakten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445551001000115 Osteogenesis imperfecta - Mikrozephalie - Katarakte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Congenital cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a microcéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Osteogenesis imperfecta, recessive perinatal lethal false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Connective tissue structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Connective tissue false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital opacity false Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Congenital anomaly of eye false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Ear, face and neck congenital anomalies (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Opacity false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Osteogenesis imperfecta, perinatal lethal true Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Congenital anomaly of visual system false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Entire brain false Inferred relationship Existential restriction modifier (core metadata concept) 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Interprets Bone formation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 5
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Interprets Birth head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 5
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Congenital microcephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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