1366188001: Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Head finding (finding)\Finding of head region\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \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\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Disorder of soft tissue\Vascular disorder\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5457748010	Vascular Ehlers-Danlos, polymicrogyria syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5457749019	Vascular EDS (Ehlers-Danlos) with polymicrogyria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5457756013	Vascular Ehlers-Danlos, polymicrogyria syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5457754011	A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5457755012	A rare type of Ehlers-Danlos syndrome characterized by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also 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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