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764995008: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder)

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
5404448010 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is 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 been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404449019 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is 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 been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5404448010 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is 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 been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404449019 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is 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 been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3386071001000112 Nägel- und Zahn-Anomalien-marginale Palmoplantarkeratose-orale Hyperpigmentierung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386071001000112 Nägel- und Zahn-Anomalien-marginale Palmoplantarkeratose-orale Hyperpigmentierung-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
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Congenital anomaly of nail false Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Mucous membrane hyperplasia false Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Melanin pigmentation of oral mucosa (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Ectodermal dysplasia with tooth-nail defects true Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Hereditary palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Congenital anomaly of tooth (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 7
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 7
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site Nail structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site Oral mucous membrane structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Melanosis of mucosa of body orifice (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology Melanosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Congenital melanosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Congenital anomaly of oral mucosa (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Functional finding false Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Autosomal recessive ichthyosis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Interprets Color of oral mucosa (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 8
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site Skin structure of sole of foot (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site Skin structure of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 8
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 7
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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