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


Status: current, Primitive. 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 Active Initial character case insensitive SNOMED CT core
742396013 Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder) en Fully specified name Active Initial character case insensitive 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 Pathological developmental process true Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Pathological process Pathological developmental process false Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Cataract false Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Dysplasia true Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Pathological process Pathological developmental process true Inferred relationship Some 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Abnormally opaque structure true Inferred relationship Some 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Has interpretation Abnormal true Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Interprets Bone formation true Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of head true Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Has interpretation Below reference range true Inferred relationship Some 5
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Pathological process Pathological developmental process true Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence Congenital true Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Interprets Birth head circumference true Inferred relationship Some 5
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Congenital microcephaly true Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Developmental hereditary disorder true Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Congenital anomaly of eye false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Congenital cataract true Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Microcephalus false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Hereditary disorder of nervous system false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Hereditary disorder of the visual system true Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Osteogenesis imperfecta, recessive perinatal lethal false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital dysplasia false Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Abnormally opaque structure false Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Osteogenesis imperfecta, perinatal lethal true Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Bone structure true Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital smallness false Inferred relationship Some 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Congenital anomaly of visual system false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a Congenital anomaly of brain false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Entire brain false Inferred relationship Some 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital cataract false Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 5
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence Congenital true Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Developmental abnormality false Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence Congenital false Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Bone structure false Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital dysplasia false Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence Congenital true Inferred relationship Some 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye true Inferred relationship Some 4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital smallness true Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Brain structure false Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Brain structure false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Dysplasia false Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Connective tissue structure false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence Congenital false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Skeletal system structure false Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital smallness false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Connective tissue false Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site Structure of lens of eye false Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology Congenital opacity false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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