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

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\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\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\RIDDLE syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\RIDDLE syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\RIDDLE syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\RIDDLE syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\RIDDLE syndrome

Status: current, Primitive. 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 Active Case sensitive SNOMED CT core

3757581018 RIDDLE syndrome en Synonym Active Case sensitive SNOMED CT core

3757582013 RNF168 (ring finger protein 168) deficiency en Synonym Active Case sensitive SNOMED CT core

3757583015 Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome en Synonym Active Case insensitive SNOMED CT core

3757584014 Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
RIDDLE syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
RIDDLE syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
RIDDLE syndrome	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
RIDDLE syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
RIDDLE syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
RIDDLE syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
RIDDLE syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
RIDDLE syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Some	2
RIDDLE syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
RIDDLE syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
RIDDLE syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3757580017	RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3757581018	RIDDLE syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3757582013	RNF168 (ring finger protein 168) deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3757583015	Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3757584014	Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core