721094006: Diaphanospondylodysostosis (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Diaphanospondylodysostosis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diaphanospondylodysostosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Diaphanospondylodysostosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Diaphanospondylodysostosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Diaphanospondylodysostosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis (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

3323478016 Diaphanospondylodysostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323479012 Diaphanospondylodysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402607018 A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402608011 A rare primary bone dysplasia characterised by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency. 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
Diaphanospondylodysostosis (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Diaphanospondylodysostosis (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Diaphanospondylodysostosis (disorder)	Is a	Spondylodysplastic group	true	Inferred relationship	Some
Diaphanospondylodysostosis (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Diaphanospondylodysostosis (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Diaphanospondylodysostosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Diaphanospondylodysostosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Diaphanospondylodysostosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Diaphanospondylodysostosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Diaphanospondylodysostosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Diaphanospondylodysostosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Diaphanospondylodysostosis (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Diaphanospondylodysostosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Diaphanospondylodysostosis (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323478016	Diaphanospondylodysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323479012	Diaphanospondylodysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402607018	A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402608011	A rare primary bone dysplasia characterised by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core