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773627004: Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3724874010 Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3724875011 Porencephaly, microcephaly, bilateral congenital cataract syndrome en Synonym Active Case insensitive SNOMED CT core
3724876012 A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. en Definition Active Case sensitive SNOMED CT core
3724877015 A rare genetic central nervous system malformation syndrome characterised by bilateral congenital cataracts and severe haemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalised spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome Occurrence Congenital true Inferred relationship Some 3
Porencephaly, microcephaly, bilateral congenital cataract syndrome Finding site Brain structure false Inferred relationship Some 3
Porencephaly, microcephaly, bilateral congenital cataract syndrome Associated morphology Congenital cavitation false Inferred relationship Some 3
Porencephaly, microcephaly, bilateral congenital cataract syndrome Finding site Structure of lens of left eye false Inferred relationship Some 2
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome Occurrence Congenital true Inferred relationship Some 1
Porencephaly, microcephaly, bilateral congenital cataract syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Porencephaly, microcephaly, bilateral congenital cataract syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Porencephaly, microcephaly, bilateral congenital cataract syndrome Occurrence Congenital true Inferred relationship Some 2
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a Bilateral congenital cataract of eyes true Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome Finding site Structure of lens of right eye false Inferred relationship Some 1
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a Congenital porencephaly true Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome Associated morphology Cataract false Inferred relationship Some 1
Porencephaly, microcephaly, bilateral congenital cataract syndrome Associated morphology Cataract false Inferred relationship Some 2
Porencephaly, microcephaly, bilateral congenital cataract syndrome Finding site Structure of lens of left eye true Inferred relationship Some 3
Porencephaly, microcephaly, bilateral congenital cataract syndrome Associated morphology Abnormally opaque structure true Inferred relationship Some 3
Porencephaly, microcephaly, bilateral congenital cataract syndrome Associated morphology Cystic dilatation true Inferred relationship Some 1
Porencephaly, microcephaly, bilateral congenital cataract syndrome Associated morphology Abnormally opaque structure true Inferred relationship Some 2
Porencephaly, microcephaly, bilateral congenital cataract syndrome Finding site Brain structure true Inferred relationship Some 1
Porencephaly, microcephaly, bilateral congenital cataract syndrome Finding site Structure of lens of right eye true Inferred relationship Some 2
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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