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

254080004: Epiphyseal dysplasia (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
378233014 Epiphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
644922010 Epiphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5081681000241110 dysplasie épiphysaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

19 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Epiphyseal dysplasia Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Epiphyseal dysplasia Finding site Bone structure false Inferred relationship Some 1
Epiphyseal dysplasia Finding site Skeletal system structure false Inferred relationship Some 1
Epiphyseal dysplasia Associated morphology Dysplasia true Inferred relationship Some 1
Epiphyseal dysplasia Occurrence Congenital false Inferred relationship Some
Epiphyseal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Epiphyseal dysplasia Finding site Bone structure false Inferred relationship Some 1
Epiphyseal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Epiphyseal dysplasia Occurrence Congenital false Inferred relationship Some 2
Epiphyseal dysplasia Finding site Bone structure false Inferred relationship Some 2
Epiphyseal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 2
Epiphyseal dysplasia Is a Disorder of epiphysis true Inferred relationship Some
Epiphyseal dysplasia Finding site Structure of epiphysis true Inferred relationship Some 1
Epiphyseal dysplasia Occurrence Congenital true Inferred relationship Some 1
Epiphyseal dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Epiphyseal dysplasia Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Epiphyseal dysplasia Is a Chronic disease of musculoskeletal system true Inferred relationship Some
Epiphyseal dysplasia Clinical course Progressive true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Multiple epiphyseal dysplasia Is a True Epiphyseal dysplasia Inferred relationship Some
Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. Is a True Epiphyseal dysplasia Inferred relationship Some
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. Is a True Epiphyseal dysplasia Inferred relationship Some
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. Is a True Epiphyseal dysplasia Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Is a True Epiphyseal dysplasia Inferred relationship Some

Reference Sets

GB English

Back to Start