1220568003: Glutamine rich 1-related intellectual disability, chondrodysplasia 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\QRICH1-related intellectual disability, chondrodysplasia 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\QRICH1-related intellectual disability, chondrodysplasia 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\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Functional finding\Cognitive function finding (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
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\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 (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\QRICH1-related intellectual disability, chondrodysplasia syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\QRICH1-related intellectual disability, chondrodysplasia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045200016	Ververi Brady syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045201017	Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045202012	Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399948017	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399949013	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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