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763795006: Malan overgrowth syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3644015014 Malan overgrowth syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644016010 Sotos syndrome 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644017018 Malan overgrowth syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404208016 A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404209012 A rare multisystemic genetic disorder characterised by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioural problems including anxieties and aggressiveness. 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
Malan overgrowth syndrome Is a Macrocephaly false Inferred relationship Some
Malan overgrowth syndrome Is a Hereditary disease false Inferred relationship Some
Malan overgrowth syndrome Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Some
Malan overgrowth syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Malan overgrowth syndrome Is a Intellectual disability true Inferred relationship Some
Malan overgrowth syndrome Associated morphology Developmental anomaly false Inferred relationship Some 2
Malan overgrowth syndrome Occurrence Congenital true Inferred relationship Some 2
Malan overgrowth syndrome Finding site Face structure true Inferred relationship Some 2
Malan overgrowth syndrome Associated morphology Congenital enlargement false Inferred relationship Some 1
Malan overgrowth syndrome Finding site Entire head false Inferred relationship Some 1
Malan overgrowth syndrome Occurrence Congenital true Inferred relationship Some 1
Malan overgrowth syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Malan overgrowth syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Malan overgrowth syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Malan overgrowth syndrome Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 1
Malan overgrowth syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Malan overgrowth syndrome Finding site Head structure true Inferred relationship Some 1
Malan overgrowth syndrome Has interpretation Above reference range true Inferred relationship Some 3
Malan overgrowth syndrome Is a Congenital macrocephaly (disorder) true Inferred relationship Some
Malan overgrowth syndrome Interprets Head circumference true Inferred relationship Some 3
Malan overgrowth syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Malan overgrowth syndrome Has interpretation Impaired true Inferred relationship Some 4
Malan overgrowth syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Malan overgrowth syndrome Has interpretation Impaired true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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