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770750002: Intellectual disability, seizures, macrocephaly, obesity 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
3702446016 Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702447013 Intellectual disability, seizures, macrocephaly, obesity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) localisation d'une constatation (attribut) Sex chromosome X (cell structure) true Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) morphologie associée (attribut) Chromosomal morphology true Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) morphologie associée (attribut) Enlargement (morphologic abnormality) true Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 4
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) est un(e) (attribut) Congenital macrocephaly (disorder) true Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) interprète (attribut) Head circumference true Inferred relationship Some 6
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 6
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) morphologie associée (attribut) Congenital enlargement (morphologic abnormality) false Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) est un(e) (attribut) Anomaly of chromosome X true Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) est un(e) (attribut) Childhood obesity (disorder) true Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) localisation d'une constatation (attribut) Entire head false Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) interprète (attribut) mesure du poids corporel true Inferred relationship Some 4
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) survenue (attribut) enfance true Inferred relationship Some 5
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) est un(e) (attribut) Macrocephaly false Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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