405772002: Congenital kyphoscoliosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of spine\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)
\Deformity (finding)\Deformity of spine\Curvature of spine\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Deformity (finding)\Deformity of spine\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (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)
\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)
\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)
\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)
\Finding of back (finding)\Finding of spinal region\Deformity of spine\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)
\Finding of back (finding)\Finding of spinal region\Deformity of spine\Curvature of spine\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Finding of back (finding)\Finding of spinal region\Deformity of spine\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)
\Finding of back (finding)\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)
\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)

\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)

\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (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)
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)
\Disease\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)

Status: current, 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

2149602012 Congenital kyphoscoliosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2157548013 Congenital kyphoscoliosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1443051000005116 Kongenit kyfoskoliose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital kyphoscoliosis (disorder)	Is a	Kyphoscoliosis deformity of spine (disorder)	true	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Is a	Kongenit postural lordose	false	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Finding site	Bone structure of spine	false	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Associated morphology	Congenital abnormal curvature	false	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Associated morphology	Erhvervet deformitet	false	Inferred relationship	Some	2
Congenital kyphoscoliosis (disorder)	Associated morphology	Erhvervet deformitet	false	Inferred relationship	Some	3
Congenital kyphoscoliosis (disorder)	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some	3
Congenital kyphoscoliosis (disorder)	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some	2
Congenital kyphoscoliosis (disorder)	Associated morphology	Lateral abnormal curvature	false	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Associated morphology	Anteroposterior abnormal curvature	false	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Associated morphology	Erhvervet deformitet	false	Inferred relationship	Some	3
Congenital kyphoscoliosis (disorder)	Is a	Congenital anomaly of spine	false	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Finding site	Spinal struktur	false	Inferred relationship	Some	3
Congenital kyphoscoliosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Associated morphology	Anteroposterior abnormal curvature	false	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Associated morphology	Lateral abnormal curvature	false	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Finding site	Bone structure of spine	false	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Associated morphology	Congenital abnormal curvature	false	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Is a	Congenital disease	false	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Associated morphology	Lateral abnormal curvature	true	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Is a	Knogledeformitet	false	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Is a	Finding of vertebra	false	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Is a	Disorder of vertebral column (disorder)	false	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital kyphoscoliosis (disorder)	Associated morphology	Lateral abnormal curvature	false	Inferred relationship	Some	2
Congenital kyphoscoliosis (disorder)	Finding site	Bone structure of spine	false	Inferred relationship	Some	2
Congenital kyphoscoliosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Is a	Congenital kyphosis	true	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital kyphoscoliosis (disorder)	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	2
Congenital kyphoscoliosis (disorder)	Associated morphology	Anteroposterior abnormal curvature	true	Inferred relationship	Some	2
Congenital kyphoscoliosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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.	Is a	True	Congenital kyphoscoliosis (disorder)	Inferred relationship	Some
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.	Is a	False	Congenital kyphoscoliosis (disorder)	Inferred relationship	Some
A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.	Is a	True	Congenital kyphoscoliosis (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2149602012	Congenital kyphoscoliosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2157548013	Congenital kyphoscoliosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1443051000005116	Kongenit kyfoskoliose	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)