278833002: Craniometadiaphyseal dysplasia (disorder)

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniometadiaphyseal dysplasia	Is a	Dysplasia with increased bone density	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniometadiaphyseal dysplasia	Is a	Osteochondrodysplasia with osteopetrosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniometadiaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniometadiaphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniometadiaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniometadiaphyseal dysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniometadiaphyseal dysplasia	Associated morphology	Abnormally hard consistency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniometadiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniometadiaphyseal dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniometadiaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniometadiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniometadiaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniometadiaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniometadiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniometadiaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniometadiaphyseal dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniometadiaphyseal dysplasia	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Craniometadiaphyseal dysplasia	Interprets	Bone density scan	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Craniometadiaphyseal dysplasia	Interprets	Osteoclast turnover rate	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniometadiaphyseal dysplasia	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniometadiaphyseal dysplasia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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.	Is a	True	Craniometadiaphyseal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
415849017	Craniometadiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
672038010	Craniometadiaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
415849017	Craniometadiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
415849017	Craniometadiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
672038010	Craniometadiaphyseal dysplasia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
672038010	Craniometadiaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5130981000241112	Dysplasie Craniometaphyseal	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5130981000241112	Dysplasie Craniometaphyseal	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module