1187644009: Basel Vanagaite Smirin Yosef syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Basel Vanagaite Smirin Yosef 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\Basel Vanagaite Smirin Yosef syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Basel Vanagaite Smirin Yosef syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Basel Vanagaite Smirin Yosef syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Basel Vanagaite Smirin Yosef syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Basel Vanagaite Smirin Yosef syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Basel Vanagaite Smirin Yosef syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Basel Vanagaite Smirin Yosef syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Basel Vanagaite Smirin Yosef syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Basel Vanagaite Smirin Yosef syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4675722018	Basel Vanagaite Smirin Yosef syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4675723011	Basel Vanagaite Smirin Yosef syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4675726015	A rare genetic intellectual disability syndrome with characteristics of severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum among others. The syndrome is caused by homozygous variants in the MED25 gene (19q13.33), coding for a component of the mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
4675727012	A rare genetic intellectual disability syndrome with characteristics of severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract and naevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum among others. The syndrome is caused by homozygous variants in the MED25 gene (19q13.33), coding for a component of the mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

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