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 |
| 3655988017 | Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655989013 | Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655990016 | Ectodermal dysplasia short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655991017 | Short stature, nail dysplasia, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655992012 | A rare genetic ectodermal dysplasia syndrome characterised by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with oesophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anaemia have also been observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3655993019 | A rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have also been observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Congenital anomaly of oral mucosa | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | constatation fonctionnelle | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | localisation d'une constatation (attribut) | Nail unit structure | true | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Autosomal recessive ichthyosis (disorder) | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Genetic disorder of nail (disorder) | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | interprète (attribut) | Colour of oral mucosa | true | Inferred relationship | Some | 6 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 8 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | localisation d'une constatation (attribut) | Skin structure of sole of foot | true | Inferred relationship | Some | 7 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | localisation d'une constatation (attribut) | peau de la région palmaire de la main (structure corporelle) | true | Inferred relationship | Some | 8 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 7 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 9 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | anomalie congénitale de l'ongle (trouble) | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Mucous membrane hyperplasia | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Melanin pigmentation of oral mucosa | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Ectodermal dysplasia with tooth-nail defects | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Congenital anomaly of tooth (disorder) | false | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | a pour interprétation (attribut) | anormal | false | Inferred relationship | Some | 7 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 6 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | localisation d'une constatation (attribut) | dent (structure corporelle) | false | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | interprète (attribut) | Keratinization, function (observable entity) | false | Inferred relationship | Some | 7 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | localisation d'une constatation (attribut) | Nail structure | false | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | localisation d'une constatation (attribut) | structure de la muqueuse orale | true | Inferred relationship | Some | 1 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | localisation d'une constatation (attribut) | dent (structure corporelle) | true | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 5 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Melanosis of mucosa of body orifice (disorder) | true | Inferred relationship | Some | ||
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | morphologie associée (attribut) | mélanose (anomalie morphologique) | true | Inferred relationship | Some | 1 | |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | est un(e) (attribut) | Congenital melanosis (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR