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770750002: Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3702446016 Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3702447013 Intellectual disability, seizures, macrocephaly, obesity syndrome en Synonym Active Case insensitive SNOMED CT core
3702448015 A rare syndromic obesity due to complex chromosomal rearrangement with characteristics of development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability, seizures, macrocephaly, obesity syndrome Finding site Sex chromosome X true Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome Associated morphology Chromosomal morphology true Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Intellectual disability, seizures, macrocephaly, obesity syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Intellectual disability, seizures, macrocephaly, obesity syndrome Associated morphology Enlargement true Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome Has interpretation Above reference range true Inferred relationship Some 4
Intellectual disability, seizures, macrocephaly, obesity syndrome Is a Congenital macrocephaly true Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome Interprets Head circumference true Inferred relationship Some 6
Intellectual disability, seizures, macrocephaly, obesity syndrome Has interpretation Above reference range true Inferred relationship Some 6
Intellectual disability, seizures, macrocephaly, obesity syndrome Finding site Structure of head true Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome Interprets Intellectual ability true Inferred relationship Some 7
Intellectual disability, seizures, macrocephaly, obesity syndrome Has interpretation Impaired true Inferred relationship Some 7
Intellectual disability, seizures, macrocephaly, obesity syndrome Interprets Adaptation behaviour true Inferred relationship Some 8
Intellectual disability, seizures, macrocephaly, obesity syndrome Has interpretation Impaired true Inferred relationship Some 8
Intellectual disability, seizures, macrocephaly, obesity syndrome Associated morphology Congenital enlargement false Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome Is a Intellectual disability true Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome Occurrence Congenital true Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome Occurrence Congenital true Inferred relationship Some 2
Intellectual disability, seizures, macrocephaly, obesity syndrome Is a Anomaly of chromosome X true Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome Is a Childhood obesity true Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome Finding site Entire head false Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome Interprets Body weight measure true Inferred relationship Some 4
Intellectual disability, seizures, macrocephaly, obesity syndrome Occurrence Childhood true Inferred relationship Some 5
Intellectual disability, seizures, macrocephaly, obesity syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome Occurrence Congenital true Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome Is a Macrocephaly false Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome Finding site Face structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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