1220568003: Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\QRICH1-related intellectual disability, chondrodysplasia 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\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\QRICH1-related intellectual disability, chondrodysplasia syndrome

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5045199019	QRICH1-related intellectual disability, chondrodysplasia syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5045200016	Ververi Brady syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5045201017	Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5045202012	Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5045203019	A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip and low-set cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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