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

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

Descriptions:

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

121 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital malformation syndromes associated with short stature Is a Short stature disorder true Inferred relationship Existential restriction modifier
Congenital malformation syndromes associated with short stature Is a Congenital malformation syndrome true Inferred relationship Existential restriction modifier
Congenital malformation syndromes associated with short stature Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital malformation syndromes associated with short stature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
Congenital malformation syndromes associated with short stature Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital malformation syndromes associated with short stature Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Congenital malformation syndromes associated with short stature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Congenital malformation syndromes associated with short stature Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Congenital malformation syndromes associated with short stature Interprets Height / growth measure true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Aarskog syndrome Is a False Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Congenital malformation syndrome associated with short stature NOS Is a False Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Aarskog syndrome Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Multiple malformation syndrome, small stature, without skeletal dysplasia Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Kabuki make-up syndrome Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Mesomelic dysplasia Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Metaphyseal chondrodysplasia Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Diastrophic dysplasia Is a False Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Achondrogenesis Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Hypochondroplasia Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Metatropic dysplasia Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Absent thumb with short stature and immunodeficiency syndrome Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Brachyolmia Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier
Congenital malformation syndrome associated with short stature NOS Is a False Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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