1169355000: Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \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\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \Disease\Genetic disease\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability 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\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability 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\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4607740010	Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4607741014	Zhu Tokita Takenouchi Kim syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4607742019	ZTTK syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4607743012	Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4607744018	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres. Musculoskeletal abnormalities include hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity. Ocular involvement includes strabismus, hypermetropia and cortical visual impairment. Hypotonia may also be associated. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations. The disorder is due to a heterozygous de novo SON mutation (21q22.11), which encodes for a protein required for proper RNA splicing. Whilst the disease is autosomal dominant, all reported cases have occurred sporadically.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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