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783096008: Subaortic stenosis and short stature syndrome (disorder)

Status: current, Not 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
3757568013 Onat syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757569017 Subaortic stenosis and short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757570016 Subaortic stenosis and short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757571017 A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and occasionally epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5408461017 A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5408462012 A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984. 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
Subaortic stenosis and short stature syndrome Is a Congenital subaortic stenosis true Inferred relationship Some
Subaortic stenosis and short stature syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Subaortic stenosis and short stature syndrome Is a Short stature disorder true Inferred relationship Some
Subaortic stenosis and short stature syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Subaortic stenosis and short stature syndrome Occurrence Congenital true Inferred relationship Some 1
Subaortic stenosis and short stature syndrome Finding site Structure of subvalvular aortic region (body structure) true Inferred relationship Some 1
Subaortic stenosis and short stature syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Subaortic stenosis and short stature syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Subaortic stenosis and short stature syndrome Associated morphology Stenosis (morphologic abnormality) true Inferred relationship Some 1
Subaortic stenosis and short stature syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Subaortic stenosis and short stature syndrome Interprets Height / growth measure false Inferred relationship Some 2
Subaortic stenosis and short stature syndrome Interprets Body height (observable entity) true Inferred relationship Some 2
Subaortic stenosis and short stature syndrome Has interpretation Below reference range true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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