774068004: AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Clinical history and observation findings\General finding of observation of patient\...

\Finding related to sleep\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

\General body state finding\Vital signs finding\Respiratory rate AND/OR rhythm finding\Apnea\Sleep apnea\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome

\Finding by site\Finding of body region\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\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Finding by site\Finding of body region\Finding of head and neck region\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
\Finding by site\Finding of body region\Finding of head and neck region\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
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of respiratory system (disorder)\Respiratory obstruction\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of respiratory system (disorder)\Sleep apnea\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Finding by site\Disorder by body site (disorder)\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
\Finding by site\Disorder by body site (disorder)\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
\Finding by site\Respiratory finding\Finding of respiration\Respiratory rate AND/OR rhythm finding\Apnea\Sleep apnea\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Finding by site\Respiratory finding\Disorder of respiratory system (disorder)\Respiratory obstruction\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Finding by site\Respiratory finding\Disorder of respiratory system (disorder)\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\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 by body site (disorder)\Disorder of body system\Hereditary disorder by system\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of respiratory system (disorder)\Respiratory obstruction\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of respiratory system (disorder)\Sleep apnea\Obstructive sleep apnea syndrome\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Disease\Disorder by body site (disorder)\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 by body site (disorder)\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\Mental disorder\Developmental mental disorder\Intellectual disability\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Disease\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\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\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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\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	Reference Sets
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	US English: Acceptable (foundation metadata concept)
3727860014	Xia Gibbs syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
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	US English: Preferred (foundation metadata concept)
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	GB English: Acceptable (foundation metadata concept)
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	GB English: Preferred (foundation metadata concept)
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	GB English: Preferred (foundation metadata concept)
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	GB English: Preferred (foundation metadata concept)
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	US English: Preferred (foundation metadata concept)
4209251000052117	syndrom med AHDC1-relaterad intellektuell funktionsnedsättning, obstruktiv sömnapné och lindrig dysmorfism	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Interprets	Respiration observable	true	Inferred relationship	Some	3
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Associated morphology	Obstruction	true	Inferred relationship	Some	1
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Is a	Obstructive sleep apnea syndrome	true	Inferred relationship	Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Finding site	Structure of respiratory system (body structure)	true	Inferred relationship	Some	3
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Is a	Hereditary disorder by system	true	Inferred relationship	Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Finding site	Airway structure	true	Inferred relationship	Some	1
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Has interpretation	Absent	true	Inferred relationship	Some	3
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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