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774155009: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3728167013 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3728168015 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3728169011 SAMS syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3728170012 SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Finding site Bone structure of mandible true Inferred relationship Existential restriction modifier 3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Congenital micrognathism true Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Finding site External auditory canal structure true Inferred relationship Existential restriction modifier 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Congenital skeletal dysplasia true Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Short stature disorder true Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Congenital atresia of external auditory canal true Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Associated morphology Congenital atresia true Inferred relationship Existential restriction modifier 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier 4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Interprets Height / growth measure true Inferred relationship Existential restriction modifier 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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