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715628009: Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303220015 Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303221016 Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303222011 MORM syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303223018 Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305363018 MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303224012 Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. 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, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) localisation d'une constatation (attribut) pénis (structure corporelle) true Inferred relationship Some 1
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 2
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) est un(e) (attribut) Congenital hypoplasia of penis true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) est un(e) (attribut) Hereditary retinal dystrophy true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) est un(e) (attribut) Central obesity true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) est défini par la manifestation de (attribut) Obese (finding) false Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 3
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) localisation d'une constatation (attribut) structure de la rétine true Inferred relationship Some 3
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 4
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) localisation d'une constatation (attribut) pénis (structure corporelle) false Inferred relationship Some 4
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) interprète (attribut) mesure du poids corporel 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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