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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
3303220015 Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character case insensitive (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
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
650921000274110 Intelligenzminderung - stammbetonte Adipositas - Netzhautdystrophie - Mikropenis de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3426401001000110 MORM-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6326211000241119 syndrome de MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6326221000241114 syndrome de déficience intellectuelle, obésité du tronc, dystrophie rétinienne et micropénis fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6326211000241119 syndrome de MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6326221000241114 syndrome de déficience intellectuelle, obésité du tronc, dystrophie rétinienne et micropénis fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
650921000274110 Intelligenzminderung - stammbetonte Adipositas - Netzhautdystrophie - Mikropenis de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3426401001000110 MORM-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
MORM syndrome Is a Congenital hypoplasia of penis true Inferred relationship Existential restriction modifier (core metadata concept)
MORM syndrome Is a Hereditary retinal dystrophy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
MORM syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
MORM syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
MORM syndrome Is a Central obesity true Inferred relationship Existential restriction modifier (core metadata concept)
MORM syndrome Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
MORM syndrome Has definitional manifestation Obese false Inferred relationship Existential restriction modifier (core metadata concept)
MORM syndrome Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
MORM syndrome Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
MORM syndrome Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
MORM syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
MORM syndrome Finding site Penile structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
MORM syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
MORM syndrome Interprets Measured body weight (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
MORM syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
MORM syndrome Finding site Penile structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
MORM syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
MORM syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
MORM syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
MORM syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
MORM syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
MORM syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
MORM syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 5
MORM syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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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