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783096008: Subaortic stenosis and short stature syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757568013 Onat syndrome en Synonym Active Case sensitive SNOMED CT core
3757569017 Subaortic stenosis and short stature syndrome en Synonym Active Case insensitive SNOMED CT core
3757570016 Subaortic stenosis and short stature syndrome (disorder) en Fully specified name Active Case insensitive 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 Active Case sensitive 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 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 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 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 true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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