719378009: Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Deformity (finding)\déformation de la colonne vertébrale\Curvature of spine\déformation cyphotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Deformity (finding)\déformation de la colonne vertébrale\Curvature of spine\déformation cyphotique de la colonne vertébrale\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Deformity (finding)\déformation de la colonne vertébrale\Curvature of spine\déformation scoliotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\déformation cyphotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\déformation cyphotique de la colonne vertébrale\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\déformation de la colonne vertébrale\Curvature of spine\déformation cyphotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\déformation de la colonne vertébrale\Curvature of spine\déformation cyphotique de la colonne vertébrale\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\déformation de la colonne vertébrale\Curvature of spine\déformation scoliotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation cyphotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation cyphotique de la colonne vertébrale\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \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)
• \affection de la tête\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)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \affection de la tête\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)
• \constatation générale à propos de l'observation du patient\Body measurement finding\...
• \Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \déformation cyphotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \déformation cyphotique de la colonne vertébrale\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Hereditary disorder of musculoskeletal system\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \déformation scoliotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\déformation cyphotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\déformation cyphotique de la colonne vertébrale\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\déformation scoliotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection de la tête\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\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection de la tête\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\trouble mental\troubles mentaux du développement\Intellectual disability\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\Congenital disease\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\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation cyphotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation cyphotique de la colonne vertébrale\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Kyphoscoliosis deformity of spine (disorder)\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital kyphosis\cyphoscoliose congénitale\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\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
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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