719378009: Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Deformity\Deformity of spine\Curvature of spine\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Deformity\Deformity of spine\Curvature of spine\Kyphosis deformity of spine\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Deformity\Deformity of spine\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Deformity\Congenital deformity\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Finding of spinal region\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Finding of spinal region\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Finding of spinal region\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Finding of spinal region\Deformity of spine\Curvature of spine\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Finding of spinal region\Deformity of spine\Curvature of spine\Kyphosis deformity of spine\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Finding of spinal region\Deformity of spine\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \General finding of observation of patient\Body measurement finding\...
• \Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Kyphosis deformity of spine\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Hereditary disorder of musculoskeletal system\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Congenital anomaly of musculoskeletal system\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Kyphosis deformity of spine\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of back\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of back\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of back\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital kyphosis\Congenital kyphoscoliosis\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephaly with brachydactyly and kyphoscoliosis syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Microcephaly with brachydactyly and kyphoscoliosis syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316142014	Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316143016	Microcephalus with brachydactyly and kyphoscoliosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316144010	Microcephaly with brachydactyly and kyphoscoliosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316145011	Viljoen Kallis Voges syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3316146012	This syndrome has characteristics of profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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