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

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Congenital microcephaly\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

\Functional finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Musculoskeletal finding\Bone finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Developmental disorder\Developmental hereditary disorder\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type II\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

26374019 Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts en Synonym Active Only initial character case insensitive SNOMED CT core module

742396013 Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

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
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Osteogenesis imperfecta, recessive perinatal lethal	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Connective tissue structure	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Congenital opacity	false	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Congenital anomaly of eye	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Abnormally opaque structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Osteogenesis imperfecta type II	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Congenital anomaly of visual system	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Entire brain	false	Inferred relationship	Existential restriction modifier	4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Congenital cataract	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	5
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Structure of lens of eye	true	Inferred relationship	Existential restriction modifier	4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Cataract	false	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Existential restriction modifier	4
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Interprets	Bone formation, function	true	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	5
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	5
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier

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Id	Description	Lang	Type	Status	Case?	Module
26374019	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
742396013	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module