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715987000: Congenital heart defect with round face and developmental delay syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304337016 Sonoda syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3310921016 Congenital heart defect with round face and developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310922011 Congenital heart defect with round face and developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304338014 A very rare syndrome described in three siblings of one Japanese family with main features of congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. 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
Sonoda syndrome Is a Congenital heart disease true Inferred relationship Some
Sonoda syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Sonoda syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Sonoda syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Sonoda syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Sonoda syndrome Associated morphology Developmental anomaly false Inferred relationship Some 2
Sonoda syndrome Occurrence Congenital true Inferred relationship Some 2
Sonoda syndrome Finding site Face structure true Inferred relationship Some 2
Sonoda syndrome Associated morphology Developmental anomaly false Inferred relationship Some 3
Sonoda syndrome Occurrence Congenital false Inferred relationship Some 3
Sonoda syndrome Finding site Heart structure false Inferred relationship Some 3
Sonoda syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Sonoda syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Sonoda syndrome Occurrence Congenital true Inferred relationship Some 1
Sonoda syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Sonoda syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Sonoda syndrome Finding site Heart structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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