719378009: syndroom van microcefalie, brachydactylie en kyfoscoliose (aandoening)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316143016	Microcephalus with brachydactyly and kyphoscoliosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316144010	Microcephaly with brachydactyly and kyphoscoliosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316145011	Viljoen Kallis Voges syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6789201000146119	syndroom van Viljoen-Kallis-Voges	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6789211000146117	syndroom van microcefalie, brachydactylie en kyfoscoliose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6789221000146110	syndroom van microcefalie, brachydactylie en kyfoscoliose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	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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