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205808005: Congenital malformation syndromes associated with short stature (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
315601014 Congenital malformation syndromes associated with short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
591227011 Congenital malformation syndromes associated with short stature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


123 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital malformation syndromes associated with short stature morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Congenital malformation syndromes associated with short stature Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital malformation syndromes associated with short stature interprète (attribut) Height / growth measure true Inferred relationship Some 2
Congenital malformation syndromes associated with short stature est un(e) (attribut) Congenital malformation syndrome (disorder) true Inferred relationship Some
Congenital malformation syndromes associated with short stature survenue (attribut) congénital false Inferred relationship Some
Congenital malformation syndromes associated with short stature morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Congenital malformation syndromes associated with short stature est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Congenital malformation syndromes associated with short stature survenue (attribut) congénital true Inferred relationship Some 1
Congenital malformation syndromes associated with short stature morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Mesomelic dysplasia est un(e) (attribut) True Congenital malformation syndromes associated with short stature Inferred relationship Some
Metaphyseal chondrodysplasia est un(e) (attribut) True Congenital malformation syndromes associated with short stature Inferred relationship Some
Diastrophic dysplasia (disorder) est un(e) (attribut) False Congenital malformation syndromes associated with short stature Inferred relationship Some
achondrogenèse (trouble) est un(e) (attribut) True Congenital malformation syndromes associated with short stature Inferred relationship Some
Hypochondroplasia est un(e) (attribut) True Congenital malformation syndromes associated with short stature Inferred relationship Some
Metatropic dysplasia (disorder) est un(e) (attribut) True Congenital malformation syndromes associated with short stature Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) est un(e) (attribut) True Congenital malformation syndromes associated with short stature Inferred relationship Some
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) est un(e) (attribut) True Congenital malformation syndromes associated with short stature Inferred relationship Some
Brachyolmia est un(e) (attribut) True Congenital malformation syndromes associated with short stature Inferred relationship Some
Aarskog syndrome est un(e) (attribut) True Congenital malformation syndromes associated with short stature Inferred relationship Some
Multiple malformation syndrome, small stature, without skeletal dysplasia est un(e) (attribut) True Congenital malformation syndromes associated with short stature Inferred relationship Some
Aarskog syndrome (disorder) est un(e) (attribut) False Congenital malformation syndromes associated with short stature Inferred relationship Some
Congenital malformation syndrome associated with short stature NOS est un(e) (attribut) False Congenital malformation syndromes associated with short stature Inferred relationship Some
syndrome de Kabuki est un(e) (attribut) True Congenital malformation syndromes associated with short stature Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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