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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 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 est un(e) (attribut) Congenital subaortic stenosis true Inferred relationship Some
Subaortic stenosis and short stature syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Subaortic stenosis and short stature syndrome est un(e) (attribut) insuffisance staturale 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 survenue (attribut) congénital true Inferred relationship Some 1
Subaortic stenosis and short stature syndrome localisation d'une constatation (attribut) Structure of subvalvular aortic region true Inferred relationship Some 1
Subaortic stenosis and short stature syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Subaortic stenosis and short stature syndrome est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Subaortic stenosis and short stature syndrome morphologie associée (attribut) Stenosis (morphologic abnormality) true Inferred relationship Some 1
Subaortic stenosis and short stature syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Subaortic stenosis and short stature syndrome interprète (attribut) Height / growth measure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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