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772224009: Warburg micro syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3717757011 Warburg micro syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3717758018 Warburg micro syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3717763019 Micro syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Warburg micro syndrome est un(e) (attribut) Congenital malformation of corpus callosum true Inferred relationship Some
Warburg micro syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Warburg micro syndrome survenue (attribut) congénital true Inferred relationship Some 3
Warburg micro syndrome localisation d'une constatation (attribut) Corpus callosum structure true Inferred relationship Some 1
Warburg micro syndrome survenue (attribut) congénital true Inferred relationship Some 2
Warburg micro syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Warburg micro syndrome est un(e) (attribut) Gonadal dysgenesis true Inferred relationship Some
Warburg micro syndrome localisation d'une constatation (attribut) cristallin true Inferred relationship Some 2
Warburg micro syndrome est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Warburg micro syndrome localisation d'une constatation (attribut) Gonadal structure true Inferred relationship Some 3
Warburg micro syndrome est un(e) (attribut) RAB18, member RAS oncogene family deficiency (disorder) true Inferred relationship Some
Warburg micro syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Warburg micro syndrome est un(e) (attribut) Congenital cataract true Inferred relationship Some
Warburg micro syndrome survenue (attribut) congénital true Inferred relationship Some 1
Warburg micro syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Warburg micro syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Warburg micro syndrome morphologie associée (attribut) Cataract false Inferred relationship Some 2
Warburg micro syndrome morphologie associée (attribut) opacité true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

GB English

US English

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