725099009: Craniometadiaphyseal dysplasia wormian bone type (disorder)

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

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (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\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Craniometadiaphyseal dysplasia\Craniometadiaphyseal dysplasia wormian bone type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3438526012 Craniometadiaphyseal dysplasia wormian bone type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5403395017 Craniometadiaphyseal dysplasia, wormian bone type is 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5403396016 Craniometadiaphyseal dysplasia, wormian bone type is 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
3438525011	Craniometadiaphyseal dysplasia wormian bone type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3438526012	Craniometadiaphyseal dysplasia wormian bone type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403395017	Craniometadiaphyseal dysplasia, wormian bone type is 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403396016	Craniometadiaphyseal dysplasia, wormian bone type is 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	Entire term case sensitive (core metadata concept)	SNOMED CT core