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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
5399936015 A rare developmental defect with connective tissue involvement characterized by 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
5399937012 A rare developmental defect with connective tissue involvement characterised by 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
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
5399936015 A rare developmental defect with connective tissue involvement characterized by 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
5399937012 A rare developmental defect with connective tissue involvement characterised by 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
3422771001000112 Schwere Myopie-generalisierte Überstreckbarkeit der Gelenke-Kleinwuchs-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422771001000112 Schwere Myopie-generalisierte Überstreckbarkeit der Gelenke-Kleinwuchs-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
Severe myopia, generalized joint laxity, short stature syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a Multiple dislocations with dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a Severe myopia true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a Congenital connective tissue disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a Injury of connective tissue (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 5
Severe myopia, generalized joint laxity, short stature syndrome Due to Spontaneous event (event) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Severe myopia, generalized joint laxity, short stature syndrome Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Existential restriction modifier (core metadata concept) 6
Severe myopia, generalized joint laxity, short stature syndrome Interprets Body height (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe myopia, generalized joint laxity, short stature syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe myopia, generalized joint laxity, short stature syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe myopia, generalized joint laxity, short stature syndrome Finding site Skeletal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe myopia, generalized joint laxity, short stature syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe myopia, generalized joint laxity, short stature syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe myopia, generalized joint laxity, short stature syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe myopia, generalized joint laxity, short stature syndrome Finding site Connective tissue structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe myopia, generalized joint laxity, short stature syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe myopia, generalized joint laxity, short stature syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe myopia, generalized joint laxity, short stature syndrome Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe myopia, generalized joint laxity, short stature syndrome Associated morphology Dislocation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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