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772224009: Warburg micro syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3717757011 Warburg micro syndrome en Synonym Active Case sensitive SNOMED CT core
3717758018 Warburg micro syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3717763019 Micro syndrome en Synonym Active Case insensitive SNOMED CT core
3717764013 An autosomal recessive disorder with characteristics of ocular and neurodevelopmental defects and micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. With exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period. Mutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Warburg micro syndrome Is a Congenital anomaly of corpus callosum true Inferred relationship Some
Warburg micro syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Warburg micro syndrome Occurrence Congenital true Inferred relationship Some 3
Warburg micro syndrome Finding site Corpus callosum structure true Inferred relationship Some 1
Warburg micro syndrome Occurrence Congenital true Inferred relationship Some 2
Warburg micro syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Warburg micro syndrome Is a Gonadal dysgenesis true Inferred relationship Some
Warburg micro syndrome Finding site Structure of lens of eye true Inferred relationship Some 2
Warburg micro syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
Warburg micro syndrome Finding site Gonadal structure true Inferred relationship Some 3
Warburg micro syndrome Is a RAB18, member RAS oncogene family deficiency true Inferred relationship Some
Warburg micro syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Warburg micro syndrome Is a Congenital cataract true Inferred relationship Some
Warburg micro syndrome Occurrence Congenital true Inferred relationship Some 1
Warburg micro syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Warburg micro syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Warburg micro syndrome Associated morphology Cataract false Inferred relationship Some 2
Warburg micro syndrome Associated morphology Abnormally opaque structure true Inferred relationship Some 2
Warburg micro syndrome Interprets Intellectual ability true Inferred relationship Some 4
Warburg micro syndrome Has interpretation Impaired true Inferred relationship Some 4
Warburg micro syndrome Interprets Adaptation behaviour true Inferred relationship Some 5
Warburg micro syndrome Has interpretation Impaired true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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