783099001: Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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\RIDDLE syndrome
• \Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\RIDDLE syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\RIDDLE syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\RIDDLE syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\RIDDLE syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\RIDDLE syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\RIDDLE syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757580017	RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757581018	RIDDLE syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757582013	RNF168 (ring finger protein 168) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757583015	Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757584014	Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757585010	A rare genetic primary immunodeficiency disorder with characteristics of increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D) and learning difficulties (LE). There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.	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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