719156006: X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \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\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Degenerative disorder\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315189016	X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3315190013	X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3315191012	X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3315192017	This syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration.This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.	en	Definition	Active	Case sensitive	SNOMED CT core
3315193010	This syndrome is characterised by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinaemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration.This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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