725099009: Craniometadiaphyseal dysplasia wormian bone type (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type

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

Descriptions:

Id Description Lang Type Status Case? Module

3438525011 Craniometadiaphyseal dysplasia wormian bone type (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3438526012 Craniometadiaphyseal dysplasia wormian bone type en Synonym Active Case insensitive SNOMED CT core

3438527015 An extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. en Definition Active Case sensitive SNOMED CT core

3777336015 An extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modelling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniometadiaphyseal dysplasia wormian bone type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Craniometadiaphyseal dysplasia wormian bone type	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniometadiaphyseal dysplasia wormian bone type	Finding site	Bone structure	true	Inferred relationship	Some	1
Craniometadiaphyseal dysplasia wormian bone type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Craniometadiaphyseal dysplasia wormian bone type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Craniometadiaphyseal dysplasia wormian bone type	Clinical course	Progressive	true	Inferred relationship	Some	4
Craniometadiaphyseal dysplasia wormian bone type	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	3
Craniometadiaphyseal dysplasia wormian bone type	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Craniometadiaphyseal dysplasia wormian bone type	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Craniometadiaphyseal dysplasia wormian bone type	Interprets	Bone density scan	true	Inferred relationship	Some	2
Craniometadiaphyseal dysplasia wormian bone type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Craniometadiaphyseal dysplasia wormian bone type	Is a	Craniometadiaphyseal dysplasia	true	Inferred relationship	Some
Craniometadiaphyseal dysplasia wormian bone type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Craniometadiaphyseal dysplasia wormian bone type	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Craniometadiaphyseal dysplasia wormian bone type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Craniometadiaphyseal dysplasia wormian bone type	Occurrence	Congenital	false	Inferred relationship	Some	3
Craniometadiaphyseal dysplasia wormian bone type	Finding site	Bone structure	false	Inferred relationship	Some	3

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
3438525011	Craniometadiaphyseal dysplasia wormian bone type (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3438526012	Craniometadiaphyseal dysplasia wormian bone type	en	Synonym	Active	Case insensitive	SNOMED CT core
3438527015	An extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.	en	Definition	Active	Case sensitive	SNOMED CT core
3777336015	An extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modelling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.	en	Definition	Active	Case sensitive	SNOMED CT core