774068004: AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism 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\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \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\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \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\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Finding related to sleep (finding)\Sleep disorder\...
• \Breathing-related sleep disorder\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Sleep apnea\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Respiratory finding\Finding of respiration\Apnea\Sleep apnea\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Respiratory finding\Disorder of respiratory system\Respiratory obstruction (disorder)\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Respiratory finding\Disorder of respiratory system\Sleep apnea\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \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\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \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\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of respiratory system\Respiratory obstruction (disorder)\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of respiratory system\Sleep apnea\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Sleep disorder\Breathing-related sleep disorder\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Sleep disorder\Sleep apnea\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3727859016	AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727860014	Xia Gibbs syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727861013	AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727862018	AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727863011	AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727864017	AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727865016	A rare syndromic intellectual disability characterised by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnoea, mild dysmorphic facial features and behavioural abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727866015	A rare syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727859016	AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727860014	Xia Gibbs syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727861013	AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727862018	AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727863011	AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727864017	AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727865016	A rare syndromic intellectual disability characterised by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnoea, mild dysmorphic facial features and behavioural abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727866015	A rare syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447471001000119	Intelligenzminderung-obstruktive Schlafapnoe-milde Dysmorphien-Syndrom durch AHDC1-Genmutation	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5639741000241111	syndrome de déficience intellectuelle, apnée obstructive du sommeil et dysmorphie modérée associé à la mutation du gène AHDC1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5639751000241114	syndrome de Xia-Gibbs	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5639741000241111	syndrome de déficience intellectuelle, apnée obstructive du sommeil et dysmorphie modérée associé à la mutation du gène AHDC1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5639751000241114	syndrome de Xia-Gibbs	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447471001000119	Intelligenzminderung-obstruktive Schlafapnoe-milde Dysmorphien-Syndrom durch AHDC1-Genmutation	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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