Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3643622014 | Isolated congenital adermatoglyphia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643623016 | Congenital absence of fingerprints | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643624010 | Isolated congenital adermatoglyphia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643626012 | Immigration delay disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5404183019 | Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404184013 | Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3643622014 | Isolated congenital adermatoglyphia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643623016 | Congenital absence of fingerprints | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643624010 | Isolated congenital adermatoglyphia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643626012 | Immigration delay disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643625011 | A rare genetic developmental defect during embryogenesis disorder with characteristics of the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. There is evidence the disorder is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404183019 | Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404184013 | Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3443381001000116 | Adermatoglyphie, isolierte kongenitale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
891591000172118 | absence congénitale d'empreintes digitales | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1018031000172117 | adermatoglyphie congénitale isolée | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
891591000172118 | absence congénitale d'empreintes digitales | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1018031000172117 | adermatoglyphie congénitale isolée | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3443381001000116 | Adermatoglyphie, isolierte kongenitale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | Is a | Abnormal dermatoglyphic pattern (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | Is a | Aplasia of skin | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | Is a | Hereditary disorder of the integument (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | Is a | Congenital absence | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | Finding site | Entire dermatoglyphic patterns | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)