719404009: Lethal recessive chondrodysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Lethal recessive chondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lethal recessive chondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Lethal recessive chondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Lethal recessive chondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Lethal recessive chondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Lethal recessive chondrodysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal recessive chondrodysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal recessive chondrodysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal recessive chondrodysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal recessive chondrodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lethal recessive chondrodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Lethal recessive chondrodysplasia
\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\Lethal recessive chondrodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Lethal recessive chondrodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Lethal recessive chondrodysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Lethal recessive chondrodysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Lethal recessive chondrodysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Lethal recessive chondrodysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Lethal recessive chondrodysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Lethal recessive chondrodysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Lethal recessive chondrodysplasia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3316228014 Lethal recessive chondrodysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3316229018 Lethal recessive chondrodysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3316233013 Maroteaux Stanescu Cousin syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal recessive chondrodysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Lethal recessive chondrodysplasia	Is a	Chondrodysplasia	true	Inferred relationship	Existential restriction modifier
Lethal recessive chondrodysplasia	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Lethal recessive chondrodysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Lethal recessive chondrodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Lethal recessive chondrodysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Lethal recessive chondrodysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Lethal recessive chondrodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Lethal recessive chondrodysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Lethal recessive chondrodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Lethal recessive chondrodysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Lethal recessive chondrodysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Lethal recessive chondrodysplasia	Is a	Developmental hereditary disorder	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
3316228014	Lethal recessive chondrodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3316229018	Lethal recessive chondrodysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316233013	Maroteaux Stanescu Cousin syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module