719378009: Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)

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

5402075011 Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by 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

5402076012 Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterised by 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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Microcephalus	false	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Brachydactyly	true	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Congenital kyphoscoliosis (disorder)	true	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	6
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	7
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	9
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	9
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Entire digit	false	Inferred relationship	Some	9
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	Lateral abnormal curvature	false	Inferred relationship	Some	7
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Bone structure of spine	false	Inferred relationship	Some	7
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	8
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	8
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Deformity of bone	false	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Finding of vertebra	false	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Disorder of vertebral column (disorder)	false	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	Lateral abnormal curvature	true	Inferred relationship	Some	4
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Bone structure of spine	false	Inferred relationship	Some	4
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Entire digit	true	Inferred relationship	Some	1
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Congenital deformity of spine	false	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some	5
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	Lateral abnormal curvature	false	Inferred relationship	Some	5
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	4
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	6
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	6
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	8
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	8
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	7
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	Anteroposterior abnormal curvature (morphologic abnormality)	true	Inferred relationship	Some	7
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	7
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	9
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	9
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

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Active

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Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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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
5402075011	Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by 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
5402076012	Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterised by 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