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711156009: Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3047531014 Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3047532019 KBG syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5155227012 Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5155228019 Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
KBG syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
KBG syndrome Is a Congenital malformation false Inferred relationship Some
KBG syndrome Occurrence Congenital true Inferred relationship Some 1
KBG syndrome Associated morphology Developmental anomaly false Inferred relationship Some 1
KBG syndrome Is a Multisystem disorder false Inferred relationship Some
KBG syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
KBG syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
KBG syndrome Is a Congenital malformation syndromes associated with short stature true Inferred relationship Some
KBG syndrome Is a Developmental hereditary disorder true Inferred relationship Some
KBG syndrome Interprets 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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