722109008: Osteocraniostenosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteocraniostenosis
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteocraniostenosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteocraniostenosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteocraniostenosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteocraniostenosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteocraniostenosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteocraniostenosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteocraniostenosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Osteocraniostenosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteocraniostenosis
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteocraniostenosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteocraniostenosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteocraniostenosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteocraniostenosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteocraniostenosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteocraniostenosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteocraniostenosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteocraniostenosis
\Disease\Developmental disorder\Developmental hereditary disorder\Osteocraniostenosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteocraniostenosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteocraniostenosis

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3330725011 Osteocraniostenosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3330726012 Osteocraniostenosis en Synonym Active Case insensitive SNOMED CT core

3330727015 Gracile bone dysplasia en Synonym Active Case insensitive SNOMED CT core

3330728013 Osteocraniosplenic syndrome en Synonym Active Case insensitive SNOMED CT core

3330729017 A lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. First described in 1989, less than 30 cases have been reported so far. Etiology is not well known, but some histological findings report growth plate disorganization and adjacent diaphyseal ossification. There is evidence that the disease is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12. en Definition Active Case sensitive SNOMED CT core

3330730010 A lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralisation. First described in 1989, less than 30 cases have been reported so far. Aetiology is not well known, but some histological findings report growth plate disorganisation and adjacent diaphyseal ossification. There is evidence that the disease is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteocraniostenosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Osteocraniostenosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteocraniostenosis	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteocraniostenosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Osteocraniostenosis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Osteocraniostenosis	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Osteocraniostenosis	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Osteocraniostenosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteocraniostenosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteocraniostenosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteocraniostenosis	Finding site	Bone structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330725011	Osteocraniostenosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330726012	Osteocraniostenosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3330727015	Gracile bone dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3330728013	Osteocraniosplenic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330729017	A lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. First described in 1989, less than 30 cases have been reported so far. Etiology is not well known, but some histological findings report growth plate disorganization and adjacent diaphyseal ossification. There is evidence that the disease is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.	en	Definition	Active	Case sensitive	SNOMED CT core
3330730010	A lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralisation. First described in 1989, less than 30 cases have been reported so far. Aetiology is not well known, but some histological findings report growth plate disorganisation and adjacent diaphyseal ossification. There is evidence that the disease is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.	en	Definition	Active	Case sensitive	SNOMED CT core