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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
5400990015 A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400991016 A rare genetic syndromic intellectual disability characterised by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. 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) Is a Congenital hypoplasia of penis (disorder) true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Is a Hereditary retinal dystrophy true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Is a Central obesity true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Has definitional manifestation Obese (finding) false Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Some 3
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Finding site Retinal structure true Inferred relationship Some 3
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 4
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Finding site Penile structure false Inferred relationship Some 4
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Interprets Body weight measure true Inferred relationship Some 2
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Finding site Penile structure 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) Associated morphology Hypoplasia true Inferred relationship Some 1
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Has interpretation Above reference range true Inferred relationship Some 2
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) 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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