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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)