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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315190013	X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315191012	X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401970018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401971019	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalised hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinaemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315189016	X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315190013	X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315191012	X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401970018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401971019	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalised hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinaemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425431001000111	X-chromosomale Intelligenzminderung - Hypogammaglobulinämie - progressive neurologische Ausfälle	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
892831000172113	syndrome de déficience intellectuelle liée à l'X-hypogammaglobulinémie-détérioration neurologique progressive	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
892831000172113	syndrome de déficience intellectuelle liée à l'X-hypogammaglobulinémie-détérioration neurologique progressive	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3425431001000111	X-chromosomale Intelligenzminderung - Hypogammaglobulinämie - progressive neurologische Ausfälle	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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