778067002: Brachytelephalangic chondrodysplasia punctata (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Brachytelephalangic chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachytelephalangic chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Brachytelephalangic chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Brachytelephalangic chondrodysplasia punctata
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachytelephalangic chondrodysplasia punctata
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachytelephalangic chondrodysplasia punctata
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Brachytelephalangic chondrodysplasia punctata
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachytelephalangic chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachytelephalangic chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Brachytelephalangic chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Brachytelephalangic chondrodysplasia punctata
\Disease\Metabolic disease\Metabolic bone disease\Brachytelephalangic chondrodysplasia punctata
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Disease\Congenital disease\Inborn error of metabolism\Brachytelephalangic chondrodysplasia punctata
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Disease\Developmental disorder\Developmental hereditary disorder\Brachytelephalangic chondrodysplasia punctata
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Brachytelephalangic chondrodysplasia punctata

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3737612017 Brachytelephalangic chondrodysplasia punctata (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3737613010 Brachytelephalangic chondrodysplasia punctata en Synonym Active Entire term case insensitive SNOMED CT core module

3737614016 BCDP - brachytelephalangic chondrodysplasia punctata en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachytelephalangic chondrodysplasia punctata	Is a	Chondrodysplasia punctata	true	Inferred relationship	Existential restriction modifier
Brachytelephalangic chondrodysplasia punctata	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Brachytelephalangic chondrodysplasia punctata	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Brachytelephalangic chondrodysplasia punctata	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Brachytelephalangic chondrodysplasia punctata	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Brachytelephalangic chondrodysplasia punctata	Is a	Metabolic bone disease	true	Inferred relationship	Existential restriction modifier
Brachytelephalangic chondrodysplasia punctata	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Brachytelephalangic chondrodysplasia punctata	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Brachytelephalangic chondrodysplasia punctata	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier
Brachytelephalangic chondrodysplasia punctata	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Brachytelephalangic chondrodysplasia punctata	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachytelephalangic chondrodysplasia punctata	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3737612017	Brachytelephalangic chondrodysplasia punctata (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3737613010	Brachytelephalangic chondrodysplasia punctata	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3737614016	BCDP - brachytelephalangic chondrodysplasia punctata	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module