722109008: Osteocraniostenosis (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\Osteocraniostenosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteocraniostenosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteocraniostenosis (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\Osteocraniostenosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteocraniostenosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteocraniostenosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteocraniostenosis (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteocraniostenosis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Osteocraniostenosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteocraniostenosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteocraniostenosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteocraniostenosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteocraniostenosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteocraniostenosis (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\Osteocraniostenosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteocraniostenosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteocraniostenosis (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteocraniostenosis (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Osteocraniostenosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteocraniostenosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteocraniostenosis (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

3330725011 Osteocraniostenosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330726012 Osteocraniostenosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330727015 Gracile bone dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330728013 Osteocraniosplenic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402825010 Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402826011 Osteocraniostenosis is a lethal skeletal dysplasia characterised by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralisation. 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
Osteocraniostenosis (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Osteocraniostenosis (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Osteocraniostenosis (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Osteocraniostenosis (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteocraniostenosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteocraniostenosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteocraniostenosis (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteocraniostenosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteocraniostenosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteocraniostenosis (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteocraniostenosis (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
3330725011	Osteocraniostenosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330726012	Osteocraniostenosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330727015	Gracile bone dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330728013	Osteocraniosplenic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402825010	Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402826011	Osteocraniostenosis is a lethal skeletal dysplasia characterised by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralisation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core