FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

1217372003: Severe myopia, generalized joint laxity, short stature syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5036039013 Severe myopia, generalized joint laxity, short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5036040010 Severe myopia, generalised joint laxity, short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5036041014 Severe myopia, generalized joint laxity, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5036042019 A rare developmental defect with connective tissue involvement and characteristics of joint hyperextensibility and multiple dislocations of large joints, severe myopia and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus and progressive hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) Multiple dislocations with dysplasia true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) Severe myopia true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) affection congénitale du tissu conjonctif true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) Connective tissue hereditary disorder true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) Injury of connective tissue (disorder) true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome évolution clinique (attribut) progressif true Inferred relationship Some 5
Severe myopia, generalized joint laxity, short stature syndrome Due to Spontaneous event (event) true Inferred relationship Some 7
Severe myopia, generalized joint laxity, short stature syndrome localisation d'une constatation (attribut) Structure of visual system (body structure) true Inferred relationship Some 6
Severe myopia, generalized joint laxity, short stature syndrome interprète (attribut) taille corporelle (entité observable) true Inferred relationship Some 4
Severe myopia, generalized joint laxity, short stature syndrome a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 4
Severe myopia, generalized joint laxity, short stature syndrome survenue (attribut) congénital true Inferred relationship Some 1
Severe myopia, generalized joint laxity, short stature syndrome localisation d'une constatation (attribut) Skeletal system structure true Inferred relationship Some 1
Severe myopia, generalized joint laxity, short stature syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Severe myopia, generalized joint laxity, short stature syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Severe myopia, generalized joint laxity, short stature syndrome survenue (attribut) congénital true Inferred relationship Some 2
Severe myopia, generalized joint laxity, short stature syndrome localisation d'une constatation (attribut) Connective tissue structure true Inferred relationship Some 2
Severe myopia, generalized joint laxity, short stature syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Severe myopia, generalized joint laxity, short stature syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Severe myopia, generalized joint laxity, short stature syndrome localisation d'une constatation (attribut) Joint structure of multiple body sites (body structure) true Inferred relationship Some 3
Severe myopia, generalized joint laxity, short stature syndrome morphologie associée (attribut) Dislocation true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start