Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3724060019 | Shaheen syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3724061015 | Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3724062010 | Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3724063017 | A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3724060019 | Shaheen syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3724061015 | Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3724062010 | Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3724063017 | A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3449841001000118 | Hypohidrose-Schmelzhypoplasie-Palmoplantarkeratose-Intelligenzminderung-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6296751000241111 | syndrome d'hypohidrose, hypoplasie de l'émail, kératodermie palmoplantaire et retard mental | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6296761000241114 | syndrome d'hypohidrose, hypoplasie de l'émail, kératodermie palmoplantaire et déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6296771000241118 | syndrome de Shaheen | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6296751000241111 | syndrome d'hypohidrose, hypoplasie de l'émail, kératodermie palmoplantaire et retard mental | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6296761000241114 | syndrome d'hypohidrose, hypoplasie de l'émail, kératodermie palmoplantaire et déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6296771000241118 | syndrome de Shaheen | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3449841001000118 | Hypohidrose-Schmelzhypoplasie-Palmoplantarkeratose-Intelligenzminderung-Syndrom | 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 |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Has interpretation | Abnormal | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Digestive system hereditary disorder | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of the integument (disorder) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Hypohidrosis | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Interprets | Keratinisation | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Finding site | Sweat gland structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Intelligenzminderung | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Hereditary diffuse palmoplantar keratoderma | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Enamel hypoplasia (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Finding site | Enamel structure (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Associated morphology | Hyperkeratosis | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Finding site | Skin structure of palmar area of hand | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Inherited disorder of keratinisation | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Finding site | Skin structure of sole of foot (body structure) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Keratosis (disorder) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Rough skin (finding) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Finding site | Entire skin of palmar area of hand | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Finding site | Entire skin of sole of foot | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Interprets | Sweating, function (observable entity) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of tooth | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Has interpretation | Impaired (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 8 | |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Has interpretation | Impaired (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 8 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets