FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

78494001: Amelogenesis imperfecta (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
130245014 Amelogenesis imperfecta en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
130246010 Congenital enamel hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
503854013 AI - Amelogenesis imperfecta en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
819440011 Amelogenesis imperfecta (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
872431000172115 amélogenèse imparfaite fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393081001000116 Amelogenesis imperfecta de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

23 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Amelogenesis imperfecta Is a Hereditary or idiopathic disturbance of tooth structure false Inferred relationship Some
Amelogenesis imperfecta Is a Enamel hypoplasia false Inferred relationship Some
Amelogenesis imperfecta Finding site Enamel structure false Inferred relationship Some 1
Amelogenesis imperfecta Finding site Jaw region structure false Inferred relationship Some
Amelogenesis imperfecta Associated morphology Congenital hypoplasia false Inferred relationship Some 1
Amelogenesis imperfecta Is a Congenital anomaly of digestive tract false Inferred relationship Some
Amelogenesis imperfecta Is a Congenital malformation false Inferred relationship Some
Amelogenesis imperfecta Is a Congenital anomaly of teeth false Inferred relationship Some
Amelogenesis imperfecta Occurrence Congenital false Inferred relationship Some
Amelogenesis imperfecta Is a Congenital anomaly of tooth (disorder) true Inferred relationship Some
Amelogenesis imperfecta Is a Congenital anomaly of jaw false Inferred relationship Some
Amelogenesis imperfecta Associated morphology Hypoplasia false Inferred relationship Some 2
Amelogenesis imperfecta Finding site Enamel structure true Inferred relationship Some 1
Amelogenesis imperfecta Associated morphology anomalie congénitale false Inferred relationship Some 1
Amelogenesis imperfecta Finding site Enamel structure false Inferred relationship Some 2
Amelogenesis imperfecta Is a Digestive system hereditary disorder false Inferred relationship Some
Amelogenesis imperfecta Is a Disorder of hard tissues of teeth (disorder) true Inferred relationship Some
Amelogenesis imperfecta Occurrence Congenital false Inferred relationship Some 3
Amelogenesis imperfecta Associated morphology anomalie du développement false Inferred relationship Some 3
Amelogenesis imperfecta Finding site Structure of hard tissue of tooth false Inferred relationship Some 3
Amelogenesis imperfecta Occurrence Congenital true Inferred relationship Some 1
Amelogenesis imperfecta Finding site Structure of hard tissue of tooth false Inferred relationship Some 1
Amelogenesis imperfecta Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Amelogenesis imperfecta Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Amelogenesis imperfecta Is a Developmental hereditary disorder true Inferred relationship Some
Amelogenesis imperfecta Is a Hereditary disorder of tooth true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Amelogenesis imperfecta, hypocalcification type Is a True Amelogenesis imperfecta Inferred relationship Some
Amelogenesis imperfecta, hypomaturation type Is a True Amelogenesis imperfecta Inferred relationship Some
Amelogenesis imperfecta, hypoplastic type Is a True Amelogenesis imperfecta Inferred relationship Some
Enamel-renal syndrome Is a True Amelogenesis imperfecta Inferred relationship Some
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Is a True Amelogenesis imperfecta Inferred relationship Some
A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait. Is a True Amelogenesis imperfecta Inferred relationship Some
Amelogenesis imperfecta co-occurrent with cone rod dystrophy Is a True Amelogenesis imperfecta Inferred relationship Some
Associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications and delay of tooth eruption. Is a True Amelogenesis imperfecta Inferred relationship Some
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. Is a True Amelogenesis imperfecta Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. Is a True Amelogenesis imperfecta Inferred relationship Some
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. Is a True Amelogenesis imperfecta Inferred relationship Some
A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. Is a True Amelogenesis imperfecta Inferred relationship Some
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. Is a True Amelogenesis imperfecta Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Is a True Amelogenesis imperfecta Inferred relationship Some

This concept is not in any reference sets

Back to Start