1251450006: 16p12.1p12.3 triplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger (finding)\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome (disorder)
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\16p12.1p12.3 triplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5133531011	16p12.1p12.3 triplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5133532016	16p12.1p12.3 triplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5133533014	Tetrasomy 16p12.1p12.3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5133534015	A rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16. The syndrome has characteristics of global developmental delay, pre or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or less commonly infantile hepatic disease. Patients are also reported to have tapered fingers.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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